1. 초음파실 통계 OBGY도플러정밀양수검사3DHyteroSONO합계 06.3.20~3.25 4916616000222 5521617212284

2. Neural tube defect

3. 정 o 미 F/29 정 o 미 F/29 Adm date: 06.03.24 Adm date: 06.03.24 C/C: skipped mense 11+5wks C/C: skipped mense 11+5wks alleged exencephaly alleged exencephaly P/I: P/I: 상환 vaginal spotting 있어 local OBGY 에서 threatened abortion 으로 observation 도중 USG 상 exencephaly 소견 보여 termination 위해 adm. 상환 vaginal spotting 있어 local OBGY 에서 threatened abortion 으로 observation 도중 USG 상 exencephaly 소견 보여 termination 위해 adm.

4. Family Hx: 친부, DM Family Hx: 친부, DM Drug Hx (-) Drug Hx (-) OB Hx OB Hx P: 1-0-0-1 (NFSD, 41wks,F, 3200g) P: 1-0-0-1 (NFSD, 41wks,F, 3200g) mense Hx : regular -28days-mod- (-) mense Hx : regular -28days-mod- (-) L.M.P.2005.12.30 L.M.P.2005.12.30 E.D.C ;2006.10.6 E.D.C ;2006.10.6

9. Imp Imp Single pregnancy 11w5d Single pregnancy 11w5d Exencephaly Exencephaly R/O subchorionic hematoma R/O subchorionic hematoma Plan Plan 1. admission and TOP 1. admission and TOP 2. autopsy 2. autopsy 3. recurrence risk counseling 3. recurrence risk counseling

10. Progress Note 3/24 ~ 3/26 6 AM 3/24 ~ 3/26 6 AM Misoprostol 2T q 6hrs  total 16T Misoprostol 2T q 6hrs  total 16T Cx: 1FB, 25% Cx: 1FB, 25% 3/26 11 AM: Nalador start 3/26 11 AM: Nalador start 3/26 8 PM: Lami#6 insertion 3/26 8 PM: Lami#6 insertion Cx: 1.5FB, 25% Cx: 1.5FB, 25%

11. Progress Note 3/27 1AM: Lami#7 insertion 3/27 1AM: Lami#7 insertion Cx: 2FB, 25% Cx: 2FB, 25% 3/27 6AM: Lami#10 insertion 3/27 6AM: Lami#10 insertion Cx: 2FB, 25% Cx: 2FB, 25% 3/27 10 AM: Lami remove and Nalador start 3/27 10 AM: Lami remove and Nalador start Cx: 2FB, 50% Cx: 2FB, 50% 3/27 12:55 PM: fetus out 3/27 12:55 PM: fetus out

12. Anomaly still birth note Weight: 10g Weight: 10g Sex: unknown Sex: unknown Skin staining(-) Skin staining(-) Maceration (-) Maceration (-) Edema (-) Edema (-) Frog eye Frog eye calvarium 이 없이 brain tissue 가 노출되어 있음 calvarium 이 없이 brain tissue 가 노출되어 있음 trunk, extrimities 에 gross anomaly 소견은 관찰 되지 않음 trunk, extrimities 에 gross anomaly 소견은 관찰 되지 않음 Cord: 13cm, N-S Cord: 13cm, N-S Placenta: 30g, 구조이상 (-), edema(-) Placenta: 30g, 구조이상 (-), edema(-)

15. Neural Tube Defect Review

16. Failure of normal neural tube closure between the 3 rd and 4 th week of embryologic development Failure of normal neural tube closure between the 3 rd and 4 th week of embryologic development Anencephaly, encephalocele, spina bifida, inencephaly, amniotic band Anencephaly, encephalocele, spina bifida, inencephaly, amniotic band

17. Epidemiology 2nd most common fetal malformation 2nd most common fetal malformation 1~2/1000 1~2/1000 Geographic variation Geographic variation Multifactorial in origin Multifactorial in origin Nutritional deficiency Nutritional deficiency Anticonvulsant agents Anticonvulsant agents Zinc deficiency, hyperthermia, aminopterin, clomiphene citrate, IDDM Zinc deficiency, hyperthermia, aminopterin, clomiphene citrate, IDDM Genetic factor Genetic factor

18. Estimated incidence of neural tube defects based on specific risk factors in the USA Estimated incidence of neural tube defects based on specific risk factors in the USA Mother as reference General incidence General incidence1.4~1.6 Women with diabetes mellitus Women with diabetes mellitus20 Women with valproic acid Women with valproic acid10~20 Fetus as reference one sibling with neural tube defect one sibling with neural tube defect15~30 two siblings with neural tube defect two siblings with neural tube defect57 parent with neural tube defect parent with neural tube defect11 half sibling with neural tube defect half sibling with neural tube defect8 first cousin (mother’s sister’s child) first cousin (mother’s sister’s child)10 other first cousins other first cousins3 siblings with severe scoliosis secondary to multiple vertebral defects siblings with severe scoliosis secondary to multiple vertebral defects15~30 sibling with occult spina dysraphism sibling with occult spina dysraphism15~30 sibling with sacrococcygeal teratoma or hamartoma sibling with sacrococcygeal teratoma or hamartoma Approximately 15~30

19. Screening Protocols MS-AFT MS-AFT 2.5 multiples of the median 2.5 multiples of the median Anencephaly (90%), open spina bifida(80%) Anencephaly (90%), open spina bifida(80%) Ultrasound Ultrasound Amniocentesis Amniocentesis

20. Embryology

21. Acrania/Anencephaly Absence of the cranial vault Absence of the cranial vault The membranous flat bones above the orbits The membranous flat bones above the orbits Anencephaly: little ~ no brain tissue Anencephaly: little ~ no brain tissue Exencephaly: normal amount of brain tissue Exencephaly: normal amount of brain tissue Ultrasound Ultrasound 11 wks, Mickey Mouse face 11 wks, Mickey Mouse face Spina bifida, urinary tract abnormalities, cleft lip and palate, GI abnormalities, cardiac abn. Spina bifida, urinary tract abnormalities, cleft lip and palate, GI abnormalities, cardiac abn.

23. Amniotic Band Syndrome Destructive fetal complex caused by disruption of the amnion with fetal entalglement in the amnion Destructive fetal complex caused by disruption of the amnion with fetal entalglement in the amnion Asymmetrical amputation of fetal parts Asymmetrical amputation of fetal parts No association with chromosomal abnormalities No association with chromosomal abnormalities

24. Cephalocele Protrusion of cranial structures through a defect in the skull Protrusion of cranial structures through a defect in the skull Encephalocele, meningocele, encephalomeningocele, encephalomeningocystocele Encephalocele, meningocele, encephalomeningocele, encephalomeningocystocele Neural ectodermal maldevelopment + Mesodermal maldevelopment Neural ectodermal maldevelopment + Mesodermal maldevelopment

26. Associated Anomalies The Meckel-Gruber syndrome The Meckel-Gruber syndrome Ventriculomegaly Ventriculomegaly Spina bifida Spina bifida Microcephaly Microcephaly Chiari’s deformity type III Chiari’s deformity type III Median cleft face syndrome Median cleft face syndrome Chromosomal aberrations Chromosomal aberrations

28. The Spine

29. Spina Bifida Primary failure of closeure of the neuropore Primary failure of closeure of the neuropore Imbalance between the production and reabsoption rate of CSF in the embryonic period Imbalance between the production and reabsoption rate of CSF in the embryonic period Ventral defect Ventral defect Dorsal defect: spina bifida occulta, spina bifida aperta Dorsal defect: spina bifida occulta, spina bifida aperta

33. Spina Bifida Associated anomalies Associated anomalies Chiari’s malformation type II Chiari’s malformation type II Dislocation of hip and foot Dislocation of hip and foot

34. Inencephaly Inencephaly Scoliosis Scoliosis Diastematomelia Diastematomelia Sacral agenesis Sacral agenesis