MCMA Twins with Discordant Pathologies: A Case of Goldenhar Syndrome

Introduction Monochorionic monoamniotic (MCMA) twin pregnancies share a common placenta and amniotic sac, are rare and can carry significant risks. Complications include fetal anomalies (15– 25%) and high mortality rates due to entanglement of their umbilical cords and prematurity [1]. Cesarean delivery is recommended at 33 weeks [2]. Goldenhar syndrome, a congenital condition caused by abnormal development of the first and second branchial arches, presents with a triad: 1) mandibular hypoplasia, 2) ocular and auricular defects, 3) vertebral abnormalities [3][4]. Case Presentation A 25-year-old woman, first pregnancy and labor, was diagnosed with an MCMA twin pregnancy. At 18 weeks, Twin A was diagnosed with multiplex malformations, while Twin B appeared healthy. Amniocentesis was performed, the DNA microarrays genetic test did not reveal any specific abnormalities. The mother chose to continue the pregnancy after being offered three options: terminate the pregnancy, terminate Twin A, or carry to 32–33 weeks. At 28 weeks, preterm contractions led to hospitalization and fetal lung maturation. At 32 weeks, a cesarean section was performed. Twin A passed away shortly after birth due to severe pathologies. Twin B, a male, suffered respiratory failure, was treated in the NICU for 5 days, and later transferred to the department of neonatal diseases. Twin B showed dysplasia features characteristic of Goldenhar syndrome: facial asymmetry, an underdeveloped left lip corner, a low-set and deformed left ear, and an underdeveloped jaw on the left. Discussion MCMA twins form when the zygote splits between days 8 and 12 after fertilization, with shared chorionic and amniotic membranes already formed [5]. Early diagnostics, particularly in the first semester, is crucial to assess potential issues like anatomical abnormalities, twin-twin transfusion syndrome, reduced fetal growth, fetal death [2]. The etiology of Goldenhar syndrome is diverse. Regarding the clinical case, gestational diabetes and multiple gestation may also contribute to its development. Treatment and prognosis depend on severity of malformations [4]. Conclusions This case highlights the complexity of MCMA twin pregnancy, the importance of prenatal diagnostics, and the impact of Goldenhar syndrome on the newborn's condition.