Multiple Congenital Anomalies with Breech Presentation: Dilemma in Diagnostic Procedures, Delivery Management, and Counseling in Developing Country

Abstract

polyhydramnios with multiple congenital anomalies (micrognathia, hypotelorism, low set ear, club hand bilateral with clenched hand, club foot bilateral); arthrogryposis suspect of trisomy along with dilemmatic for diagnostic, management, and counseling aspect in developing country.

Case Illustration: A-22 years old G1P0A0 felt 8 months pregnant came to obstetrics and gynecology ward withcomplaints of labor pain since one day before admission. Physical examination revealed a normal result and external obstetric examination showed a breech fetal position. Maternal-Fetal ultrasonography at 27-28 weeks of pregnancy demonstrated a single intrauterine alive fetus, in breech position; according 27-28 (at 8 weeks before admission or 35-36 weeks at current admission) gestational weeks (27⁺³ weeks), estimated fetal weight of 1041 grams. fetal heart rate (+); polyhydramnios with multiple congenital anomalies (micrognathia, hypotelorism, low set ear, club hand bilateral with clenched hand, club foot bilateral); arthrogryposis suspect of trisomy. For diagnostic purpose, the patient was suggested for amniocentesis but the patient's family refused. Vaginal delivery was planned and the baby was born through spontaneous bracht vaginal delivery method. The patient discharged the following day but her baby was admitted to high care unit installed with continuous positive airway pressure and passed away the following day due to respiratory failure. 

Conclusions: Non-Invasive Prenatal Testing (NIPT) could be performed, followed by CVS or Amniocentesis in severe congenital anomalies cases to confirm trisomy, especially when combined with sonography findings. The method of delivering a preterm breech patient through spontaneous bracht delivery is preferred than caesarean section due to survival rate of the baby. A genetic counseling is necessary in this patient given the recurrence rate in subsequent pregnancies, but the importance in developing country is still debated.

Keywords: breech, prenatal counseling, multiple congenital anomalies, genetic