Peby Maulina Lestari, Peby Maulina
Department Of Obstetrics And Gynecology, Faculty Of Medicine, Universitas Sriwijaya / RSUP Dr. Mohammad Hoesin, Palembang, Indonesia

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Pencegahan Abortus pada Awal Kehamilan Bernolian, Nuswil; Pangemanan, Wim T.; Syamsuri, Ahmad Kurdi; Ansyori, M. Hatta; Mirani, Putri; Lestari, Peby Maulina; Martadiansyah, Abarham; Kesty, Cindy
Indonesian Journal of Obstetrics & Gynecology Science Volume 6 Nomor 3 November 2023
Publisher : Dep/SMF Obstetri & Ginekologi Fakultas Kedokteran Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/obgynia.v6i3.403

Abstract

Abortus merupakan suatu kejadian terminasi kehamilan dengan usia kehamilan <20 minggu dan berat janin <500 g. Angka kejadian abortus disebutkan sekitar 15% dari seluruh kehamilan. Terdapat beberapa faktor risiko abortus yaitu faktor risiko yang dapat dimodifikasi dan tidak dapat dimodifikasi. Beberapa faktor risiko yang dapat dimodifikasi yaitu faktor nutrisi, konsumsi kafein, alkohol, kebiasaan merokok, infeksi, paparan radiasi, beban kerja, dan pengaruh obat-obatan. Beberapa faktor risiko yang tidak dapat dimodifikasi, yaitu genetik, kelainan kongenital, dan lain-lain. Dengan mengetahui faktor risiko tersebut, dokter dapat melakukan pencegahan dan intervensi yang sesuai dengan kondisi masing-masing pasien yang mengalami abortus. Metode yang digunakan adalah tinjauan pustaka dengan menggunakan beberapa database seperti Pubmed, Wiley Online Library, dan ScienceDirect dari 10 tahun terakhir.Prevention of Miscarriage in Early PregnancyAbstractMiscarriage is an event of termination of pregnancy with < 20 weeks of gestation and fetal weight < 500 grams. The incidence of miscarriage is around 15% of all pregnancies. There are several risk factors for miscarriage, namely modifiable and non-modifiable risk factors. Some modifiable risk factors are nutritional factors, consumption of caffeine, alcohol, smoking habit, infection, radiation exposure, workload, and the influence of drugs. Several risk factors that can not be modified, namely genetics, congenital abnormalities, and others. By knowing these risk factors, doctors can carry out prevention and intervention according to the conditions of each patient who undergoes miscarriage. The method used is a literature review using several databases such as Pubmed, Wiley Online Library, and ScienceDirect from the last 10 years.Key words: miscarriage, prevention, risk factors, pregnancy.
Good Perinatal Outcome of Rhesus Incompatibility in Multigravida without Anti-D Injection Therapy: A Rare Case Report Husada, Abdillah; Lestari, Peby Maulina; Maritska, Ziske; Sari, Dian Puspita; Al Farisi Sutrisno, Muhammad; Stevanny, Bella
Indonesian Journal of Obstetrics & Gynecology Science Volume 7 Nomor 2 Juli 2024
Publisher : Dep/SMF Obstetri & Ginekologi Fakultas Kedokteran Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/obgynia.v7i2.668

Abstract

Introduction: Rhesus (Rh) incompatibility problem arises exclusively when an Rh-positive male impregnates an Rh-negative female, resulting in maternal Rh sensitization to produce anti-D antibodies that can bind and destroy Rh-positive erythrocytes of the fetus. Hemolytic disease of the neonate due to Rh incompatibility ranges from self-limited hemolytic anemia to severe hydrops fetalis. Rh incompatibility can be prevented by administering anti-D injection therapy containing Rh Intravenous Immunoglobulin (RhIVIG). We report a rare case of good perinatal outcome of rhesus incompatibility in multigravida without anti-D therapy injection due to weak D phenotype.Case Illustration: A gravida 3, para 2 woman at 27 weeks gestation with Rh-negative blood type, who has not experienced any previous compatibility problems, came to our facility for routine antenatal care. The husband has an Rh-positive blood type with a Dd genotype (heterozygous), suggesting a 50% probability that the offspring will have an Rh-positive blood type. Laboratory results showed a negative Coombs test and weak D phenotype. The patient had never received an anti-D therapy injection in this pregnancy and her previous two pregnancies. None of her children developed hemolytic disease in the neonate. Ultrasonography showed a well-developed 27-week gestational age fetus with no major congenital disorders. The good perinatal outcomes of her children might be due to weak D phenotype. Pregnant women with weak D phenotype have fewer D antigens that can still result in Rh sensitization but not enough to cause serious complications to the fetus. Conclusion: Rhesus incompatibility with weak D phenotype can have good perinatal outcomes without anti-D injection therapy. Administration of Anti-D injection remains a viable option to prevent subsequent Rh alloimmunization.Inkompatibilitas Rhesus pada Multigravida dengan Luaran Perinatal Baik tanpa Terapi Injeksi Anti-D: Laporan KasusAbstrakPendahuluan: Masalah inkompatibilitas Rhesus (Rh) muncul secara eksklusif pada ayah Rh-positif dan ibu Rh-negatif, sehingga terjadi sensitisasi Rh ibu untuk menghasilkan antibodi anti-D yang dapat mengikat dan menghancurkan eritrosit janin yang Rh-positif. Penyakit hemolitik pada neonatus akibat ketidakcocokan Rh dapat berupa anemia hemolitik yang bisa sembuh sendiri hingga hidrops fetalis berat. Inkompatibilitas Rh dapat dicegah dengan pemberian terapi injeksi anti-D yang mengandung Rh Intravenous Immunoglobulin (RhIVIG). Kami melaporkan kasus langka dengan hasil perinatal yang baik inkompatibilitas rhesus pada multigravida tanpa injeksi terapi anti-D akibat fenotip D yang lemah.Ilustrasi Kasus: Seorang wanita gravida 3, para 2 pada usia kehamilan 27 minggu dengan golongan darah Rh-negatif, yang sebelumnya tidak mengalami masalah kompatibilitas, datang ke fasilitas kami untuk pemeriksaan antenatal rutin. Suami mempunyai golongan darah Rh-positif dengan genotipe Dd (heterozigot), sehingga kemungkinan keturunannya mempunyai golongan darah Rh-positif sebesar 50%. Hasil laboratorium menunjukkan tes Coombs negatif dan fenotipe D lemah. Pasien belum pernah menerima suntikan terapi anti-D pada kehamilan ini dan dua kehamilan sebelumnya. Semua anaknya tidak menderita penyakit hemolitik pada neonatus. Hasil USG menunjukkan janin usia kehamilan 27 minggu berkembang baik tanpa cacat bawaan mayor. Hasil perinatal yang baik mungkin disebabkan oleh lemahnya fenotip D. Ibu hamil dengan fenotip D yang lemah memiliki antigen D yang lebih sedikit sehingga masih dapat menyebabkan sensitisasi Rh, namun tidak cukup menyebabkan komplikasi serius pada janin.Kesimpulan: Inkompatibilitas rhesus dengan fenotip D lemah dapat memberikan outcome perinatal yang baik tanpa terapi injeksi anti-D. Injeksi Anti-D tetap dapat diberikan untuk mencegah aloimunisasi Rh di kemudian hari.Kata kunci: Fenotip D lemah, Imunoglobulin Rh, Inkompatibilitas rhesus, Multigravida, Terapi injeksi anti-D
Multigravida 37 Weeks Pregnant Not in Labour with Carotid Cavernous Fistula Life Single Fetus Head Presentation: Case Report Puspitasari, Dwi Cahya; Bernolian, Nuswil; Pangemanan, Wim Theodorus; Syamsuri, Ahmad Kurdi; Ansyori, Muhammad Hatta; Mirani, Putri; Lestari, Peby Maulina; Martadiansyah, Abarham
Indonesian Journal of Obstetrics & Gynecology Science Volume 7 Nomor 1 Maret 2024
Publisher : Dep/SMF Obstetri & Ginekologi Fakultas Kedokteran Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/obgynia.v7i1.611

Abstract

Background: Carotid cavernous fistula (CCF) is an abnormal shunt from the carotid artery to the cavernous sinus. The management of pregnant patients with CCF is individualized. The aims of this case report are to document a rare presentation of a multigravida at 37 weeks of gestation with a carotid cavernous fistula, describe clinical symptoms and management, report outcomes, and contribute insights to the medical literature.Case Report: The referred patient, G2P1A0, who was 37 weeks pregnant with a live single fetus in cephalic presentation, presented with left eye swelling persisting since the first pregnancy at 6 months gestation, associated with headaches. The patient underwent neurosurgical intervention at Mohammad Hoesin Hospital, including digital subtraction angiography (DSA). Currently, experiencing preterm labor symptoms, the management includes inpatient care, blood transfusion (Hb > 10 g/dL), and termination via the perabdominal approach.Discussion: A multigravida at 37 weeks pregnant in labor with carotid cavernous fistula and a live single fetus in head presentation, as existing literature suggests, has no clear link between maternal carotid cavernous fistula history and fetal outcomes. Despite concerns about potential fetal abnormalities and cancer risk from endovascular embolization therapy during pregnancy, postpartum follow-up with advanced digital subtraction angiography (DSA) is planned.Conclusion: The complexity of managing a multigravida at 37 weeks pregnant in labor with carotid cavernous fistula and a live single fetus in head presentation emphasizes the importance of a multidisciplinary approach for optimal maternal and fetal outcomes.Multigravida Hamil 37 Minggu Belum Inpartu dengan Fistula Cavernosa Karotis Janin Tunggal Hidup Presentasi Kepala: Laporan KasusAbstrakLatar belakang: Fistula kavernosus karotis (CCF) adalah celah/ lubang abnormal dari arteri karotis ke sinus kavernosus. Penatalaksanaan pasien hamil dengan CCF bersifat individual. Tujuan dari laporan kasus ini adalah untuk mendokumentasikan presentasi langka seorang multigravida pada usia kehamilan 37 minggu dengan fistula kavernosus karotis, mendeskripsikan gejala klinis dan penatalaksanaannya, melaporkan hasil, dan menyumbangkan wawasan untuk literatur medis.Laporan Kasus: Pasien yang dirujuk, G2P1A0, pada usia kehamilan 37 minggu dengan janin tunggal hidup dengan presentasi kepala, datang dengan pembengkakan mata kiri yang berlangsung sejak kehamilan pertama pada usia kehamilan 6 bulan, yang berhubungan dengan sakit kepala. Pasien menjalani intervensi bedah saraf di Rumah Sakit Mohammad Hoesin, termasuk Digital Subtraction Angiography (DSA). Saat ini, mengalami gejala persalinan prematur, penatalaksanaan yang dilakukan meliputi rawat inap, transfusi darah (Hb > 10 g/dL), dan terminasi melalui pendekatan perabdominal.Diskusi: Seorang multigravida dengan usia kehamilan 37 minggu yang melahirkan dengan fistula kavernosa karotis dan janin tunggal hidup dengan presentasi kepala, merupakan kasus yang jarang terjadi, karena literatur yang ada menunjukkan tidak ada hubungan yang jelas antara riwayat fistula kavernosa karotis ibu dan hasil janin. Meskipun ada kekhawatiran mengenai potensi kelainan janin dan risiko kanker dari terapi embolisasi endovaskular selama kehamilan, tindak lanjut pascapersalinan dengan angiografi pengurangan digital (DSA) lanjutan direncanakan.Simpulan: Kompleksitas pengelolaan multigravida dengan usia kehamilan 37 minggu dalam persalinan dengan fistula kavernosa karotis dan janin tunggal hidup dengan presentasi kepala, menekankan pentingnya pendekatan multidisiplin untuk luaran ibu yang optimal. Perlunya pendektanan multidispilin keilmuan memeberiksan hasil yanga baik pada ibu dan bayinya.Kata kunci: Fistula Kavernosa Karotis, Angiografi Pengurangan Digital
Penanganan Kasus Kehamilan 32 Minggu dengan Hipertiroid Janin-Fetal Goiter Albernande, Anggy; Sutrisno, Muhammad Al Farisi; Lestari, Peby Maulina; Mafiana, Rose; Kusnadi, Yulianto; Indrayadi, Indrayadi; Aditiawati, Aditiawati
Indonesian Journal of Obstetrics & Gynecology Science Volume 7 Nomor 1 Maret 2024
Publisher : Dep/SMF Obstetri & Ginekologi Fakultas Kedokteran Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/obgynia.v7i1.609

Abstract

Hipertiroid pada kehamilan didefinisikan sebagai peningkatan kadar free T4. Hipertiroid terjadi pada 2/1000 kehamilan yaitu hipertiroid yang tidak terkontrol selama kehamilan meningkatkan risiko krisis tiroid, kelahiran prematur, dan kematian janin. Pasien Ny. DK 21 tahun datang dengan keluhan benjolan di leher kanan sebesar telur puyuh, hamil 21 minggu, dengan hasil USG fetal goiter. Pemeriksaan fisik didapatkan keadaan umum baik, suhu 36,60C; tekanan darah: 120/80 mmHg; frek. nadi: 92x/menit; frek. nafas: 20 x/menit. Pada pemeriksaan Leopold I didapatkan tinggi fundus uteri 21 cm, teraba bagian lunak. Leopold II teraba tahanan memanjang di sisi kiri kesan punggung. Leopold III teraba bagian terbawah bulat, melenting dan keras U 5/5, kesan kepala. DJJ 159x/mnt, TBJ 1240 gram. Pada pasien dilakukan observasi dan kontrol dengan rentang 2 minggu setelah pemeriksaan. Tata laksana pada pasien ini adalah asam folat, kalsium karbonat, vitamin D, propylthiouracil, folamil, dan ferrous sulfat.Management of Cases 32 Weeks Gestational Pregnancy with Fetal Hyperthyroidism-Fetal GoiterAbstractHyperthyroidism in pregnancy is defined as an increase in free T4 levels. Hyperthyroidism occurs in 2/1000 pregnancies where uncontrolled hyperthyroidism during pregnancy increases the risk of thyroid crisis, premature birth and fetal death. Patient Mrs. 21 year old DK came with complaints of a lump in her right neck the size of a quail egg, 21 weeks pregnant, with ultrasound results of fetal goiter. Physical examination revealed good general condition, temperature 36.60C; blood pressure: 120/80 mmHg; Strange. pulse: 92x/minute; Strange. breath: 20 x/minute. On examination by Leopold I, the height of the uterine fundus was 21 cm, and the soft part was palpable. Leopold II has a longitudinal resistance on the left side of the dorsal impression. Leopold III palpable lower part round, melted and hard U 5/5, head impression. DJJ 159x/minute, TBJ 1240 grams. Patients were observed and monitored at intervals of 2 weeks after the examination. Treatment for this patient is folic acid, calcium carbonate, vitamin D, propylthiouracil, folamyl and ferrous sulfate.Key words: Hyperthyroidism, fetal goiter, propylthiouracil
Factors Affecting Breastfeeding Practice among Mothers with Hospitalized Neonates Lestari, Peby Maulina; Ramadanti, Afifa; Latifah, Murwani Emasrissa; Sutrisno, Muhammad Al Farisi; Andrina, Hana; Stevanny, Bella
Indonesian Journal of Obstetrics & Gynecology Science Volume 8 Nomor 1 Maret 2025
Publisher : Dep/SMF Obstetri & Ginekologi Fakultas Kedokteran Universitas Padjadjaran

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.24198/obgynia.v8i1.707

Abstract

Introduction: Breastfeeding is essential for premature infants, as it reduces morbidity while enhancing cognitive development, ultimately supporting a more productive adulthood. However, in the United States, where 10–12% of infants are born prematurely, hospitalization in the Neonatal Intensive Care Unit (NICU) presents significant challenges to breastfeeding practices as it introduces barriers such as maternal stress, mother-infant separation, limited visitation, and inadequate support, which hinder successful breastfeeding. Method: This review used several databases, namely Google Scholar, Science Direct, Elsevier, Medline, PubMed, Proquest, dan Wiley Online Library to search original and review articles in English about breasfeeding, internsive care unit, and risk factors in the last 10 years. Other reference sources used were guidelines and textbooks.Result: The findings reveal that breast milk’s bioactive components play a critical role in protecting against morbidity during NICU hospitalization, while also fostering cognitive development. Factors influencing breastfeeding practices include demographic (maternal age, education), biological (maternal and infant health), attitudinal (breastfeeding confidence), social (family support), and hospital regulations (NICU policies).Conclusion: Factors affecting breastfeeding practice among mothers with hospitalized neonates include planned pregnancy, medical interventions, and family support. NICU hospitalization can be a significant barrier to breastfeeding due to inadequate support, visitation time, mother-infant separation, maternal stress and anxiety, and clinical conditions.Faktor-Faktor yang Memengaruhi Praktik Menyusui pada Ibu dengan Neonatus Rawat InapAbstrakPendahuluan: Pemberian Air Susu Ibu (ASI) sangat penting bagi bayi prematur karena dapat mengurangi morbiditas sekaligus meningkatkan perkembangan kognitif, yang pada akhirnya mendukung kehidupan dewasa yang lebih produktif. Namun, di Amerika Serikat, di mana 10–12% bayi lahir prematur, rawat inap di Neonatal Intensive Care Unit (NICU) menghadirkan tantangan signifikan terhadap praktik menyusui akibat berbagai hambatan seperti stres maternal, pemisahan ibu dan bayi, waktu kunjungan yang terbatas, serta dukungan yang tidak memadai, yang menghalangi keberhasilan menyusui.Metode: Tinjauan pustaka ini menggunakan beberapa basis data, yaitu Google Scholar, Science Direct, Elsevier, Medline, PubMed, Proquest, dan Wiley Online Library, untuk mencari artikel asli dan ulasan dalam bahasa Inggris tentang menyusui, unit perawatan intensif, dan faktor risiko dalam 10 tahun terakhir. Sumber referensi lainnya yang digunakan adalah pedoman dan buku teks.Hasil: Kumpulan bukti yang ada di literatur saat ini menunjukkan bahwa komponen bioaktif dalam ASI memiliki peran penting dalam melindungi bayi dari morbiditas selama hospitalisasi di NICU, sekaligus mendukung perkembangan kognitif. Faktor-faktor yang memengaruhi praktik menyusui meliputi faktor demografis (usia ibu, pendidikan), biologis (kesehatan ibu dan bayi), sikap (kepercayaan diri dalam menyusui), sosial (dukungan keluarga), dan kebijakan rumah sakit (aturan di NICU).Kesimpulan: Faktor-faktor yang memengaruhi praktik menyusui pada ibu dengan bayi yang dirawat di NICU meliputi kehamilan yang direncanakan, intervensi medis, dan dukungan keluarga. Rawat inap di NICU dapat menjadi penghalang signifikan terhadap keberhasilan menyusui akibat kurangnya dukungan, waktu kunjungan yang terbatas, pemisahan ibu dan bayi, stres dan kecemasan maternal, serta kondisi klinis bayi.Kata Kunci: Air susu ibu, Faktor risiko, Ibu, Menyusui, NICU
Correlation between Vitamin D and Hemoglobin Levels in Anemia during Pregnancy Sari, Sagita Darma; Partan, Radiyati Umi; Lestari, Peby Maulina; Liberty, Iche Andriyani
Media Publikasi Promosi Kesehatan Indonesia (MPPKI) Vol. 8 No. 6: JUNE 2025 - Media Publikasi Promosi Kesehatan Indonesia (MPPKI)
Publisher : Fakultas Kesehatan Masyarakat, Universitas Muhammadiyah Palu

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.56338/mppki.v8i6.7310

Abstract

Introduction: Anemia in pregnancy is a serious health problem for pregnant women that can increase the risk of postpartum hemorrhage, low birth weight, and fetal growth retardation. Low intake of foods that are sources of vitamin D causes low concentrations of vitamin D (25 Hydroxyvitamin D), which can increase hepcidin expression, thereby disrupting iron hemostasis which ultimately causes anemia in pregnant women. This study aims to determine the correlation between vitamin D levels and hemoglobin in anemia in pregnancy. Methods: This study used a case-control design with 68 pregnant women as respondents. Vitamin D levels were examined using 25 (OH) D levels and the ELFA method. Data on age, body mass index (BMI), frequency of pregnancy, education, and frequency of antenatal care visits were analyzed using the chi-square test and logistic regression analysis. Results: The results of the study show that the most significant proportion occurred in the age range of 20 – 35 years (84.5%), the majority of respondents had a normal body mass index (60.3%), respondents with a pregnancy frequency of 1-3 were 86.8%, most respondents had secondary education (63.2%), respondents who had regular prenatal visits amounted to 86.8%, the majority of respondent had a vitamin d insufficiency levels (48.5%). Bivariate analysis show revealed that significant influencing factors of anemia pregnancy were age (p=0.008), BMI (p=0.040), and frequency of ANC (p=0.012). There is no correlation between hemoglobin levels and vitamin D (p=0.707). Conclusion: This study did not correlate vitamin D levels and hemoglobin levels.
Multidisciplinary Approach to Cardiomyopathy in Pregnancy : From Diagnosis to Delivery Planning Saleh, Obby; Lestari, Peby Maulina
Sriwijaya Journal of Medicine Vol. 8 No. 2 (2025): Vol 8, No 2, 2025
Publisher : Fakultas Kedokteran Universitas Sriwijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32539/sjm.v8i2.319

Abstract

Cardiomyopathy in pregnancy, particularly peripartum cardiomyopathy (PPCM), is a rare but potentially life-threatening condition that poses serious risks to both maternal and fetal health. Its clinical manifestations, such as dyspnea, fatigue, and edema often resemble normal pregnancy symptoms, contributing to delayed diagnosis and treatment. This narrative review aims to summarize the etiology, diagnostic approach, and multidisciplinary management strategies for cardiomyopathy during pregnancy, focusing on PPCM, dilated cardiomyopathy (DCM), and other less common subtypes. Literature was obtained through a non-systematic search of PubMed, ScienceDirect, and Google Scholar for studies published between 2010 and 2025. Diagnosis is based on clinical evaluation, echocardiography, NT-proBNP, troponins, and exclusion of other causes. Management includes symptom control, prevention of arrhythmias and thromboembolism, and careful adaptation of standard heart failure therapy to the physiological changes of pregnancy. Medications such as beta-blockers, diuretics, and low molecular weight heparin are considered safe, while ACE inhibitors are contraindicated during gestation. The use of bromocriptine shows potential benefit in improving cardiac function but remains controversial due to the risk of thrombosis, requiring concurrent anticoagulation. Device therapy and mechanical support may be indicated in severe or refractory cases. Prognosis depends on cardiomyopathy subtype, timing of diagnosis, and left ventricular function recovery. Early recognition, close monitoring, and individualized care are essential to improve maternal and fetal outcomes. Further research is needed to guide safe and effective management strategies in pregnant patients with cardiomyopathy.
Preterm Multigravida with Two Previous Cesarean Deliveries and a Fetus with Asymmetric IUGR and Cleft Lip and Palate: A Case Report Jhonatan, Senna Moca; Martadiansyah, Abarham; Bernolian, Nuswil; Mirani, Putri; Lestari, Peby Maulina; Agustria, Rizky; Arjanggi, Kiagus Irawan Satria
Sriwijaya Journal of Medicine Vol. 8 No. 2 (2025): Vol 8, No 2, 2025
Publisher : Fakultas Kedokteran Universitas Sriwijaya

Show Abstract | Download Original | Original Source | Check in Google Scholar | DOI: 10.32539/sjm.v8i2.336

Abstract

Cleft lip and palate and intrauterine growth restriction (IUGR) are common congenital conditions and may suggest subtle genetic abnormalities. When no chromosomal defects are detected through standard testing, this combination presents a diagnostic challenge in prenatal care. . This case report presents a 33-year-old multigravida woman at 34 weeks of gestation, referred for suspected fetal growth restriction and cleft palate. Serial ultrasound examinations confirmed asymmetric IUGR along with a complete cleft involving the lip, alveolus, and palate. Elective cesarean delivery of pregnancy was performed at 36 weeks of gestation via cesarean section, with the infant diagnosed with unilateral cleft lip and palate. This case underlines the importance of considering advanced genetic testing in non-syndromic cases of CLP with IUGR. This case highlighting a gap in standard prenatal diagnostics and emphasizing the need for a broader genetic approach in such cases. Clinicians should remain alert and pursue early, comprehensive evaluation and multidisciplinary planning to ensure accurate diagnosis, timely intervention, and better neonatal outcomes.