초음파실 통계 OBGY도플러정밀양수검사3DHyteroSONO합계 ~ ~

Polyhydramnios

홍 o 인 F/34 홍 o 인 F/34 C/C: Amenorrhea 36+3 wks C/C: Amenorrhea 36+3 wks alleged IUGR, low lying placenta alleged IUGR, low lying placenta P/I P/I 상환 local OBGY 에서 PN check 받는 도중 preterm labor 로 ~ yutopar 치료 받았으며 이후 yutopar po medication 중인 분으로 USG f/u 도중 IUGR, low lying placenta 소 견 보여 본원으로 attendig 됨. 상환 local OBGY 에서 PN check 받는 도중 preterm labor 로 ~ yutopar 치료 받았으며 이후 yutopar po medication 중인 분으로 USG f/u 도중 IUGR, low lying placenta 소 견 보여 본원으로 attendig 됨.

Past Hx (-) Past Hx (-) Family Hx(-) Family Hx(-) Husband: micrognathia Husband: micrognathia OB Hx OB Hx P: P: LMP: LMP: EDC: EDC:

P/Ex P/Ex HOF ; 39 cm HOF ; 39 cm FHT; LLQ 144 FHT; LLQ 144 Pv/Ex Pv/Ex Cx ; Closed Cx ; Closed NST: reactive, acc(+), decl(-) NST: reactive, acc(+), decl(-)

Doppler Um-a: 0.63 Um-a: 0.63 Ut.a(Rt): 0.48 Ut.a(Rt): 0.48 Ut.a(Lt): 0.45 Ut.a(Lt): 0.45 MCA: 0.86 MCA: 0.86 CTAR: 13.43/52.54 CTAR: 13.43/52.54 Increased total bowel wall: 1.1~1.3cm Increased total bowel wall: 1.1~1.3cm  polyhydramnios  polyhydramnios R/O total bowel wall obstruction R/O total bowel wall obstruction

Lab Lab Triple test: negative Triple test: negative 10.6(31.6%) (78.8%)- 260k 10.6(31.6%) (78.8%)- 260k U/A :Glucose(+-), Protein(1+) U/A :Glucose(+-), Protein(1+) VDRL/A.I.D.S(-/-) VDRL/A.I.D.S(-/-) HBs Ab/HBs Ag(+/-) HBs Ab/HBs Ag(+/-) CMV IgG/ IgM (+/-) CMV IgG/ IgM (+/-) Toxoplasma IgG/ IgM(-/-) Toxoplasma IgG/ IgM(-/-) Herpes IgG/ IgM(+/-) Herpes IgG/ IgM(+/-)

C/sec C/sec Preg 38+6wks c polyhydramnios, IUGR Preg 38+6wks c polyhydramnios, IUGR M, 2290g, A/S 6  9, NICU M, 2290g, A/S 6  9, NICU Low-set ear, small chin, both 3,4th finger and both foot abnormal angulation Low-set ear, small chin, both 3,4th finger and both foot abnormal angulation

HD #1 : Side O2 5L HD #1 : Side O2 5L HD #2: HD #2: BOTH FOOT AP/LAT BOTH FOOT AP/LAT No visualization of ossification centers of talus, calcaneus and cuboid, both. No visualization of ossification centers of talus, calcaneus and cuboid, both. Abnormal angulation of MP and PIP joint Abnormal angulation of MP and PIP joint HD #3 HD #3 feeding start. feeding start. Brain sono Brain sono : Multicystic large GMH, both caudothalamic groove(1.6 cm). : Multicystic large GMH, both caudothalamic groove(1.6 cm).  GMH, both  GMH, both

HD #4 (Echo) HD #4 (Echo) RA and RVE RA and RVE PDA : very large -> 5.1 ~ 6.4 mm PDA : very large -> 5.1 ~ 6.4 mm Persistent Lt SVC into enlarged coronary sinus Persistent Lt SVC into enlarged coronary sinus CoA (-) CoA (-) HD #5 HD #5 substernal retraction 심해짐 substernal retraction 심해짐 Nasal CPAP apply  retraction (-) Nasal CPAP apply  retraction (-) chromosome 검사 chromosome 검사

Chromosome Study 46,XY,+der(9)t(9;15)(?q22.1;?q11.2),-15 46,XY,+der(9)t(9;15)(?q22.1;?q11.2),-15 unbalanced translocation of chromosome 9&15 unbalanced translocation of chromosome 9&15 Trisomy 9 mosaicism Trisomy 9 mosaicism Prader-willi syndrome, FISH (+) Prader-willi syndrome, FISH (+)

Hydramnios Prediction of Adverse Perinatal outcome Biggio, Jr. et. al, Obstet Gynocol 95:773, 1999

Objective To determine whether hydramnios is associated with an increased risk of adverse perinatal outcome To determine whether hydramnios is associated with an increased risk of adverse perinatal outcome

Materials and Methods 1986~1996, total 40,065 명 1986~1996, total 40,065 명 2 sonographic exams: before/after 20wks 2 sonographic exams: before/after 20wks Hydramnios: ≥8cm (single pocket), AFI≥25cm, Sonographer’s subject impressions Hydramnios: ≥8cm (single pocket), AFI≥25cm, Sonographer’s subject impressions Excluded: Multiple gestations, oligohydramnios Excluded: Multiple gestations, oligohydramnios Case group: repeat indirect Coombs test, 50g OGTT, USG, amniocentesis Case group: repeat indirect Coombs test, 50g OGTT, USG, amniocentesis

Results

Major structural anomalies CNS anomalies: hydrocephaly, anencephaly, holoprosencephaly, encephalocele, myelomeningocele CNS anomalies: hydrocephaly, anencephaly, holoprosencephaly, encephalocele, myelomeningocele GI anomalies: omphalocele, duodenal atresia, bowel obstruction, diaphragm hernia GI anomalies: omphalocele, duodenal atresia, bowel obstruction, diaphragm hernia Cardiovascular anomalies: structural heart defect, hydrops, pulmonary edema Cardiovascular anomalies: structural heart defect, hydrops, pulmonary edema Multiorgan system malformation: CNS, GI system, GU system Multiorgan system malformation: CNS, GI system, GU system

Perinatal Death CNS: hydrocephaly, holoprosencephaly, anencephaly CNS: hydrocephaly, holoprosencephaly, anencephaly Cardiovascular: structural heart defect, hydrops Cardiovascular: structural heart defect, hydrops Multisystem anomalies: diaphagmatic hernia, hydrocephaly, GU malformation, structural cardiac malformation Multisystem anomalies: diaphagmatic hernia, hydrocephaly, GU malformation, structural cardiac malformation 기타 : secere PIH, intrauterine infection, abruption, intrapartum head entrapment, neonatal E.coli sepsis 기타 : secere PIH, intrauterine infection, abruption, intrapartum head entrapment, neonatal E.coli sepsis

Discussion Prognostic indicator of increased risk of pregnancy complications Prognostic indicator of increased risk of pregnancy complications Extensive evaluation; comprehensive ultrasound exam, repeat DM screening, amniocentesis for karyotype analysis Extensive evaluation; comprehensive ultrasound exam, repeat DM screening, amniocentesis for karyotype analysis

Landy et al (158 cases of hydramnios) Landy et al (158 cases of hydramnios) trisomy 18 (1), structural anomaly(8) trisomy 18 (1), structural anomaly(8) Amniocentesis recommend Amniocentesis recommend Barnhard et al (49 women with hydramnios) Barnhard et al (49 women with hydramnios) Chromosomal abnormality with FGR(2), structural anomaly(6) Chromosomal abnormality with FGR(2), structural anomaly(6) Karyotype analysis  FGR or known aneuploidy Karyotype analysis  FGR or known aneuploidy Hill et al, Mayo clinic (102 cases of hydramnios) Hill et al, Mayo clinic (102 cases of hydramnios) Structural anomaly(13), perinatal death(13), overall perinatal mortality(128/1000) Structural anomaly(13), perinatal death(13), overall perinatal mortality(128/1000)

Long-term infant outcomes were not available  mortality after day 30 of life was not considered Long-term infant outcomes were not available  mortality after day 30 of life was not considered If hydramnios is diagnosed, thorough evaluation for fetal or maternal factors is indicated If hydramnios is diagnosed, thorough evaluation for fetal or maternal factors is indicated If the comprehensive USG does not identify fetal disease, the low risk of fetal aneuploidy does not justify genetic amniocentesis If the comprehensive USG does not identify fetal disease, the low risk of fetal aneuploidy does not justify genetic amniocentesis

Trisomy 9 Prevalence: rare occurrence, 2.7% of all trisomy, 85% of cases occur in mothers <35 yrs Prevalence: rare occurrence, 2.7% of all trisomy, 85% of cases occur in mothers <35 yrs Complete trisomy 9, Mosaic trisomy 9, Partial trisomy 9p and 9q syndromes Complete trisomy 9, Mosaic trisomy 9, Partial trisomy 9p and 9q syndromes Errors during the division of a parent's reproductive cells (meiosis) or during the division of body tissue cells (somatic cells) early in the development of the embryo (mitosis). Errors during the division of a parent's reproductive cells (meiosis) or during the division of body tissue cells (somatic cells) early in the development of the embryo (mitosis).

Craniofacial anomalies Craniofacial anomalies : micrognathia (retrognathia); low set anomalous ears; small palpebral fissures; and broad based nose; microcephaly; cleft lip and palate. : micrognathia (retrognathia); low set anomalous ears; small palpebral fissures; and broad based nose; microcephaly; cleft lip and palate. Cardiac defects Cardiac defects : VSD, ASD; persistent left superior vena cava; patent ductus arteriosus; aortic coarctation; pulmonic stenosis. : VSD, ASD; persistent left superior vena cava; patent ductus arteriosus; aortic coarctation; pulmonic stenosis. Skeletal abnormalities Skeletal abnormalities : fixed or dislocated large joints, rocker-bottom feet; overriding of fingers (clinodactyly); clubfoot : fixed or dislocated large joints, rocker-bottom feet; overriding of fingers (clinodactyly); clubfoot Genitourinary anomalies Genitourinary anomalies : cryptorchidism; hypospadia; double collecting system : cryptorchidism; hypospadia; double collecting system Central nervous system anomalies Central nervous system anomalies : neurodevelopmental delay; spina bifida; Dandy-Walker malformation; bilateral ventriculomegaly; enlarged cisterna magna. : neurodevelopmental delay; spina bifida; Dandy-Walker malformation; bilateral ventriculomegaly; enlarged cisterna magna. Others: growth restriction; polyhydramnios; oligohydramnios; single umbilical artery; diaphragmatic hernia; fetal hydrops; hypoplastic lungs; gut malrotation. Others: growth restriction; polyhydramnios; oligohydramnios; single umbilical artery; diaphragmatic hernia; fetal hydrops; hypoplastic lungs; gut malrotation.

Prader-Willi Syndrome Genetic defect: environmental trigger  paternal chromosomal damage (chr 15qll -13)  PWS Genetic defect: environmental trigger  paternal chromosomal damage (chr 15qll -13)  PWS 1/10,000 ~ 1/25,000 1/10,000 ~ 1/25,000 M=F, all races M=F, all races Obesity, short stature, lack of muscle tone in infancy, cryptochism, mental retardation Obesity, short stature, lack of muscle tone in infancy, cryptochism, mental retardation