Kumar Manisha, Hasija Aayushi, Garg Nikita, Mishra Ramya, Chaudhary S C Roy
1Department of Obstetrics and Gynecology, Lady Hardinge Medical College, Shahid Bhagat Singh Marg, New Delhi, 110001 India.
Pediatric Surgery, KSCH, New Delhi, India.
J Obstet Gynaecol India. 2020 Jun;70(3):195-201. doi: 10.1007/s13224-020-01311-x. Epub 2020 Apr 18.
To find out the relative prevalence of fetal neural tube defect (NTD) and its outcome in terms of survival at birth and beyond 2 years of age.
A 10-year prospective (2008-2018) observational study was performed, which included all prenatally detected fetal NTD. Two-year follow-up was done in cases of pregnancies resulting in live birth, in terms of their survival, physical morbidity and developmental delay.
NTD was seen in 401/648 (62%) cases among the central nervous system malformations. More than half of the cases (54.1%) presented after 20 weeks of gestation, and 42.8% of the mothers were primiparous. Spina bifida was seen in 206 cases, anencephaly in 144, encephalocele in 43, whereas iniencephaly was seen in only eight cases. Associated anomalies were present in 51.2%. Only 19.0% cases were live-born, and merely 11% were alive beyond 2 years of age. Among types of spina bifida, lumbosacral meningomyocele was the most common (41.6%), whereas thoracic was the rarest (8.7%). After 2 years, physical disability was observed in more than half of the cases who survived.
NTD is one of the commonest malformations with high mortality, and the physical and mental sub-normality is high among those who survive.
了解胎儿神经管缺陷（NTD）的相对患病率及其在出生时和2岁以后的生存结局。
进行了一项为期10年（2008 - 2018年）的前瞻性观察研究，纳入所有产前检测出的胎儿NTD。对分娩活婴的妊娠病例进行了为期两年的随访，内容包括生存情况、身体发病率和发育迟缓情况。
在中枢神经系统畸形病例中，401/648（62%）例存在NTD。超过一半的病例（54.1%）在妊娠20周后出现，42.8%的母亲为初产妇。脊柱裂206例，无脑儿144例，脑膨出43例，而仅8例为颈枕部脊柱裂。51.2%的病例存在相关畸形。仅19.0%的病例活产，仅11%在2岁以后存活。在脊柱裂类型中，腰骶部脊膜膨出最常见（41.6%），而胸段脊柱裂最罕见（8.7%）。2年后，超过一半存活病例存在身体残疾。
NTD是最常见的畸形之一，死亡率高，存活者中身心发育异常情况普遍。
