OB case review 한아름 (F/25)

OB G.A27w3d 로 그린산부인과에서 - 25w3d 에 머리가 2 주 작다 - 26w6d 에 전혀 자라지 않았다 G2 P0 A1 ANC & QUAD; WNL at local Wt gain 71 kg kg, 4 kg gain

Sono findings Single umbilical artery

Arachnoid cyst Sono findings

BPDHCACFLOFD 27w3d5.43cm cm cm cm cm CI : 73% 29w3d5.86cm cm cm cm 28 27w3d ->OFD : 7.46cm CI : 73%

microcephaly Definition : Abnormally small head. The fetal head diamensions(BPD,OFD,HC) are below the 3-SD range. (Kurtz et al.Ultrsound criteria for in Utero diagnosis of microcephaly.1980 / Chervenak et al. The diagnosis fo fetal microcephaly ) Diagnosis - The G.A must be confirmed. - Fetal head size should not be evaluated by BPD(which is misleading with a dolichocephalic head shape) but by HC. - The head size must be small in relation to the trunk size and the length of the limb bones. Microcephaly should be suspected in late pregnancy when the ratio of HC to AC is 1:2. (Kurjak er al.1980) DDx : Anenecephaly. Exencephaly Prognosis and rusk of recurrence - Its high association with mental retardation. -when it occurs in Meckel-Gruber syndrome, the risk of recurrence is 25%. Prenatal management - Fetal karyotyping - scrutinized for additional anomalies.

Condition that are associated with microcephaly CNS anomaliesEncephalocele Holoprosencephaly Lissencepahaly Chromosomal defectsTrisomy 13 Trisomy 18 Trisomy 22 Trisomy 9p SyndromesDe lange syndrome Dubowitz syndrome Lenz syndrome Meckel-Gruber syndrome Roberts syndrome Rubinstein syndrome InfectionsCytomegalovirus Rubella Toxoplasmosis Exogeneous agentsAlcohol Cocaine Metabolic disordersPhenylalanine embryopathy

Objective ; analyze fetues with prenatally diagnosed microcephaly including the nature of associated anomalies and the genetic-diagnostic implications. Introduction : retrospective analysis of 30 cases if microcephaly including the genetic-diagnostic implications.

Methods Between 1 january 1990 and 1 january 1997->total of 30 fetuses Mean G.A : 27weeks(range 16-36weeks) Pregnancy duration : certain LMP and/or fetal CRL(N=24). Mean maternal age : 28yesrs(19-37years) Details on obstetric and familial history were noted.

Microcephaly : HC->more than 3SD below the mean HC/AC ratio and HC/FL ratio Karyotyping was performed in 27 out of 30(90%) fetuses. - Amnioentesis (N=17) /transabdominal CVS(N=4)/ cordo(N=6) - one infant : postnatal skin biopsy. Divided into five groups ; 1) Isolated Microcephaly. 2) Microcephaly d/t holoprosencephaly. 3) Microcephaly associated with chromosomal disorders. 4) Microcephaly as part of a genetic syndrome. 5) Microcephaly as part of multiple anomalies.

- 5/30cases(16.7%) - Normal karyotype

-7/30cases (23.3%) - no 12: normal(prenatal)->deletion 7q34(postnatal)

-6/30 csases(20%) -normal karyotypes

Diagnosed ar a mean G.A : 28weeks. Fetal AC :below 2SD 19 out of 29fetuses (66%) Mortality rate : 70%(21/30) 43%(9/21)-> termination Post-mortem investigation : 8 out of 21(38%) fetuses/infants Diagnosis

Discussion Prenatal diagnosis : fetal HC below -3SD of the mean. The recurrence risk of the remaining four genetic syndromes : No18, no19, no20 and 21 The comples situations described above demonstrate the need for careful F/U studies, post morterm investigation and genetic counseling. All Pts were counseled prenatally based on the available information at that time. Perinatal mortality was determined by the severity of associated anomalies rather than by microcepahly alone.