母体宫腔结构异常合并晚孕期胎头形状异常2例产前咨询
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摘要
目的探讨母体宫腔结构异常合并晚孕期胎头形状异常的产前咨询方法。方法回顾性分析2016—2017年深圳市人民医院收治的母体宫腔结构异常合并仅晚孕期超声诊断胎儿小头畸形的产前诊断咨询病例,并随访胎儿出生后的生长发育情况。结果共有2例纳入研究,孕期超声筛查均未见胎儿结构异常。其中1例有较粗的宫腔粘连带,多次中孕期超声提示臀位,下肢活动受限,羊水细胞核型未见异常,晚孕期超声提示胎儿头围低于均值2个标准差(-2SD),头形狭长,上嘴唇外翻,单侧足内翻。另1例孕妇完全纵隔子宫,胎儿臀位,晚孕期超声发现头围-4SD,但颅底距离颅顶88 mm,头皮局部水肿合并羊水偏少;磁共振检查胎儿脑沟回发育未见异常。2例孕妇分别在36周和31+4周早产。新生儿出生时头形均明显异常,1例合并单侧足内翻。2例婴儿出生后半年及1年复查,婴儿神经发育正常,头型以及四肢外形均正常。结论母体宫腔结构有明显异常且仅晚孕期出现胎头形状异常的病例预后较好,但胎位异常及早产风险增加。产前遗传咨询医师应结合胎儿生长、孕妇宫腔结构、胎儿影像学动态变化以及磁共振等给予合理的遗传咨询意见。
ObjectiveTo discuss the clinical strategies of prenatal counseling in cases with abnormal maternal uterus cavity and misshapen fetal head detected in the third trimester.MethodsThe cases with both maternal uterus malforma?tion and ultrasound-diagnosed microcephaly only at the third trimester between 2016 and 2017 were reviewed and the postnatal development of the infants was followed up.ResultsA total of two cases were recruited and both cases showed normal fetal structure at the second trimester anomaly scan.One case was noted to have board thick fibromuscular adhe?sions band.The fetus was in breech presentation with limited fetal movement of the lower limbs.Amniocenetesis revealed normal karyotype of the fetus.At the 31 st week of the gestation,the fetus appeared to have elongated head with head cir?cumference(HC)at-2 SD level,protruding upper lip,and unilateral club foot.The other pregnant woman had complete uterine septum with fundus-located placenta and breech presentation.Her fetus had a HC below-4 SD whereas the dis?tance between the cranial bottom to top was 88 mm,with caput succedaneum and oligohydramnios.Magnetic resonance im?aging(MRI)showed normal structure and sulci gyrus development of the fetus.Both babies were born prematurely(at36 th and 31 st week)with birth weights compatible to their gestational ages,and both had an obviously misshapen head at birth.One baby also had unilateral club foot.The babies' appearance and development were totally normal at a follow-up examination at 6 months after birth.ConclusionThe prognosis of cases with uterine cavity abnormality and misshapen fetal head detected only at third trimester is usually good,but there is increased risk of malpresentation and preterm la?bor.Comprehensive assessment of the serial fetal growth conditions,maternal uterus abnormalities,and MRI are helpful in prenatal counseling.
ObjectiveTo discuss the clinical strategies of prenatal counseling in cases with abnormal maternal uterus cavity and misshapen fetal head detected in the third trimester.MethodsThe cases with both maternal uterus malforma?tion and ultrasound-diagnosed microcephaly only at the third trimester between 2016 and 2017 were reviewed and the postnatal development of the infants was followed up.ResultsA total of two cases were recruited and both cases showed normal fetal structure at the second trimester anomaly scan.One case was noted to have board thick fibromuscular adhe?sions band.The fetus was in breech presentation with limited fetal movement of the lower limbs.Amniocenetesis revealed normal karyotype of the fetus.At the 31 st week of the gestation,the fetus appeared to have elongated head with head cir?cumference(HC)at-2 SD level,protruding upper lip,and unilateral club foot.The other pregnant woman had complete uterine septum with fundus-located placenta and breech presentation.Her fetus had a HC below-4 SD whereas the dis?tance between the cranial bottom to top was 88 mm,with caput succedaneum and oligohydramnios.Magnetic resonance im?aging(MRI)showed normal structure and sulci gyrus development of the fetus.Both babies were born prematurely(at36 th and 31 st week)with birth weights compatible to their gestational ages,and both had an obviously misshapen head at birth.One baby also had unilateral club foot.The babies' appearance and development were totally normal at a follow-up examination at 6 months after birth.ConclusionThe prognosis of cases with uterine cavity abnormality and misshapen fetal head detected only at third trimester is usually good,but there is increased risk of malpresentation and preterm la?bor.Comprehensive assessment of the serial fetal growth conditions,maternal uterus abnormalities,and MRI are helpful in prenatal counseling.
引文
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[8]Sreetharan S,Thome C,Tharmalingam S,et al.Ionizing radiation exposure during pregnancy:effects on postnatal development and life[J].Radiat Res,2017,187(6):647-658.
[9]Oppelt P,von Have M,Paulsen M,et al.Female genital malformations and their associated abnormalities[J].Fertil Steril,2007,87(2):335-342.
[10]夏恩兰.子宫畸形的诊治[J].中国实用妇科与产科杂志,2018,34(4):367-371.
[11]姚秀华,刘剀,都红蕾,等.放置防粘连膜或注水球囊预防重度宫腔粘连术后复发疗效研究[J].中国实用妇科与产科杂志,2016,32(6):541-544.
[12]Dunn PM.Congenital postural deformities:perinatal associations[J].Proc R Soc Med,1972,65(8):735-738.
[13]Mikov A,Mikov I,Gajdobranski D.Incidence and outcomes of breech presentation at term in newborns with congenital postural deformities[J].Int J Gynaecol Obstet,2005,91(1):67-68.
[14]陈立芬,王伟,王莹,等.46,XY外生殖器畸形77例临床和分子遗传学分析[J].中国实用儿科杂志,2016,31(11):8552018-10-232018-12-05
[2]Abuelo D.Microcephaly syndromes[J].Semin Pediatr Neurol,2007,14(3):118-127.
[3]Smith DW.Recognizable patterns of human malformation.Genetic,embryologic and clinical aspects.Third edition[J].Major Probl Clin Pediatr,1982,7:1-653.
[4]Alvarado-Socarras JL,Idrovo AJ,Contreras-Garcia GA,et al.Congenital microcephaly:a diagnostic challenge during Zika epidemics[J].Travel Med Infect Dis,2018,23:14-20.
[5]Devakumar D,Bamford A,Ferreira MU,et al.Infectious causes of microcephaly:epidemiology,pathogenesis,diagnosis,and management[J].Lancet Infect Dis,2018,18(1):e1-e13.
[6]Mahmood S,Ahmad W,Hassan MJ.Autosomal recessive primary microcephaly(MCPH):clinical manifestations,genetic heterogeneity and mutation continuum[J].Orphanet J Rare Dis,2011,6:39.
[7]Bennett AD.Perinatal substance abuse and the drug-exposed neonate[J].Adv Nurse Pract,1999,7(5):32-36.
[8]Sreetharan S,Thome C,Tharmalingam S,et al.Ionizing radiation exposure during pregnancy:effects on postnatal development and life[J].Radiat Res,2017,187(6):647-658.
[9]Oppelt P,von Have M,Paulsen M,et al.Female genital malformations and their associated abnormalities[J].Fertil Steril,2007,87(2):335-342.
[10]夏恩兰.子宫畸形的诊治[J].中国实用妇科与产科杂志,2018,34(4):367-371.
[11]姚秀华,刘剀,都红蕾,等.放置防粘连膜或注水球囊预防重度宫腔粘连术后复发疗效研究[J].中国实用妇科与产科杂志,2016,32(6):541-544.
[12]Dunn PM.Congenital postural deformities:perinatal associations[J].Proc R Soc Med,1972,65(8):735-738.
[13]Mikov A,Mikov I,Gajdobranski D.Incidence and outcomes of breech presentation at term in newborns with congenital postural deformities[J].Int J Gynaecol Obstet,2005,91(1):67-68.
[14]陈立芬,王伟,王莹,等.46,XY外生殖器畸形77例临床和分子遗传学分析[J].中国实用儿科杂志,2016,31(11):8552018-10-232018-12-05