Gorman Colleen N, Grabois Spencer A, Mathur Shreya, Grabois Evan P, Silanee Allen
Obstetrics and Gynecology, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Davie, USA.
Obstetrics and Gynecology, Mount Sinai Medical Center, Miami, USA.
Cureus. 2023 Apr 28;15(4):e38248. doi: 10.7759/cureus.38248. eCollection 2023 Apr.
Congenital Mullerian anomalies are rare developmental defects that result in malformation of the fallopian tubes, uterus, cervix, and vagina. The bicornuate uterus is one of the many variants of Mullerian anomalies, defined as having an external fundal indentation of greater than one centimeter. Pelvic ultrasound has a sensitivity of 99% for identifying bicornuate uteruses and is the predominant imaging device used for diagnosis. The cervical and uterine cavity anatomy in patients with a bicornuate uterus varies. The effect of maternal uterine structure on offspring development has been poorly documented. This report details a rare case of dichorionic-diamniotic twin pregnancy in a bicornuate uterus with one fetus affected by Ebstein's anomaly. Twin A was diagnosed by first-trimester ultrasound with right renal agenesis and Ebstein's anomaly. Twin B did not have any anatomical defects identified on ultrasound. Both twins were delivered via emergency repeat cesarean section at 34 weeks and four days due to nonreassuring fetal heart tracings and twin A in the breech presentation. Twin A and twin B were found to be in separate horns within the uterus during low transverse cesarean section. Twin A required endotracheal intubation in the delivery room due to respiratory distress. Both twins required neonatal intensive care treatment. Twin A was found to have a right pelvic kidney, rather than right renal agenesis, while in the neonatal intensive care unit. Females with germline mutations in the Mullerian duct and urogenital sinus development have resulted in concomitant malformations in the uterus and kidneys. This is a rare case of an infant with a cardiac anomaly born to a mother with a germline mutation. The relationship between congenital heart defects and uterine anomalies has not been identified. As seen in this case, maternal malformations impacting fetal cardiac development can be sporadic or result from germline mutations in mesoderm that have not been reported yet.
先天性苗勒管异常是罕见的发育缺陷，可导致输卵管、子宫、宫颈和阴道畸形。双角子宫是苗勒管异常的多种变体之一，定义为宫底外部凹陷大于1厘米。盆腔超声识别双角子宫的敏感度为99%，是诊断中使用的主要成像设备。双角子宫患者的宫颈和子宫腔解剖结构各不相同。母体子宫结构对后代发育的影响鲜有文献记载。本报告详细描述了一例罕见的双绒毛膜双羊膜囊双胎妊娠病例，该病例发生在双角子宫中，其中一个胎儿患有埃布斯坦畸形。双胎A在孕早期超声检查中被诊断为右肾缺如和埃布斯坦畸形。双胎B在超声检查中未发现任何解剖缺陷。由于胎儿心率监护情况不佳且双胎A为臀位，两个胎儿均在孕34周零4天时通过急诊再次剖宫产分娩。在低位横切口剖宫产术中发现双胎A和双胎B位于子宫内的不同角内。双胎A因呼吸窘迫在产房需要气管插管。两个胎儿均需要新生儿重症监护治疗。在新生儿重症监护病房中发现双胎A有一个右盆腔肾，而非右肾缺如。具有苗勒管和泌尿生殖窦发育相关种系突变的女性会导致子宫和肾脏同时出现畸形。这是一例母亲患有种系突变而婴儿患有心脏异常的罕见病例。先天性心脏缺陷与子宫异常之间的关系尚未明确。如此病例所示，影响胎儿心脏发育的母体畸形可能是散发性的，或者是由尚未报道的中胚层种系突变引起的。
