- Differentiation of cystic biliary atresia and choledochal cysts using prenatal ultrasonography
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Chen L, He F, Zeng K, Wang B, Li J, Zhao D, Yang Z, Ren W
- KMID: 2523426
- Ultrasonography.
- 2022 Jan;41(1):140-149.
- doi: 10.14366/usg.21028
Purpose: This study explored the performance of prenatal ultrasonography in the differential diagnosis of cystic biliary atresia (CBA) and choledochal cyst (CC). Methods: Fetuses diagnosed with hepatic hilar cyst in the... -
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- Prenatal detection of Xq deletion by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis: A case report
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Kim BR, Kim R, Cho A, Kang HS, Park CM, Kim SY, Shim SS
- KMID: 2524737
- J Genet Med.
- 2021 Dec;18(2):117-120.
- doi: 10.5734/JGM.2021.18.2.117
We experienced a case of Xq deletion -- 46,X,del(X)(q22.3) -- detected by abnormal noninvasive prenatal screening, subsequently diagnosed by amniocentesis. Genetic counseling was a challenge because there are few reports... -
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- Prenatal Diagnosis of an Ascending Aortic Aneurysm Inherited from the Father: A Case Report of Loeys-Dietz Syndrome Type 1
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Sim YK, Lee DH, Kim JK, Chae HS, Lee JH, Jeong YJ
- KMID: 2522533
- Perinatology.
- 2021 Sep;32(3):151-155.
- doi: 10.14734/PN.2021.32.3.151
Inherited aortic aneurysms are very rare during fetal life. If an aortic aneurysm is seen on prenatal ultrasound, the differential diagnosis of hereditable connective tissue disorders, such as Loeys-Dietz syndrome,... -
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- Sonographic evaluation of fetal scrotum, testes and epididymis
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Soto , González JLM, Martínez MV, Pérez RL, Rivero IM, Fernández ML, Izquierdo OG, Cendán JPM
- KMID: 2520260
- Obstet Gynecol Sci.
- 2021 Sep;64(5):393-406.
- doi: 10.5468/ogs.21040
External male genitalia have rarely been evaluated on fetal ultrasound. Apart from visualization of the penis for fetal sex determination, there are no specific instructions or recommendations from scientific societies.... -
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- The diagnosis of an imperforate anus in female fetuses
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Kim HM, Cha HH, Kim JI, Seong WJ, Park SH, Kim MJ
- KMID: 2518667
- Yeungnam Univ J Med.
- 2021 Jul;38(3):240-244.
- doi: 10.12701/yujm.2020.00507
Imperforate anus is an anomaly caused by a defect in the development of the hindgut during early pregnancy. It is a relatively common congenital malformation and is more common in... -
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- Prenatal Diagnosis of Ventricular Tachycar dia Initiated from Bradycardia
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Kim R, Lee MY, Song LR, Choi SA, Chung JH, Won HS, Lee PR, Kim EAR, Baek JS
- KMID: 2522523
- Perinatology.
- 2021 Jun;32(2):95-99.
- doi: 10.14734/PN.2021.32.2.95
Fetal ventricular tachycardia (VT) is an extremely rare condition. Because sustained VT is highly associated with perinatal morbidity and mortality, prenatal management with antiarrhythmic drugs is crucial. A 33-year-old woman... -
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- Congenital Long QT Syndrome Type 8 Characterized by Fetal Onset of Bradycardia and 2:1 Atrioventricular Block
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Joo D, Lee HD, Kim T, Ko H, Byun JH
- KMID: 2513361
- Neonatal Med.
- 2021 Feb;28(1):59-63.
- doi: 10.5385/nm.2021.28.1.59
An important, albeit rare, cause of fetal bradycardia is long QT syndrome (LQTS). Congenital LQTS is an ion channelopathy caused by mutations in genes encoding cardiac ion channel proteins. Fetal... -
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- Clinical Practice Guidelines for Prenatal Aneuploidy Screening and Diagnostic Testing from Korean Society of Maternal-Fetal Medicine:(1) Prenatal Aneuploidy Screening
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Choe SA, Seol HJ, Kwon JY, Park CW, Kim M, Lee JY, Kim MA, Hwang HS, Na S, Shim JY, Kim K, Ryu HM
- KMID: 2511632
- J Korean Med Sci.
- 2021 Jan;36(4):e27.
- doi: 10.3346/jkms.2021.36.e27
In 2019, the Korean Society of Maternal-Fetal Medicine developed the first Korean clinical practice guidelines for prenatal aneuploidy screening and diagnostic testing. These guidelines were developed by adapting established clinical... -
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- Prenatal ultrasonographic findings of esophageal atresia: potential diagnostic role of the stomach shape
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Chang CS, Choi Y, Kim Sy, Yee C, Kim M, Sung JH, Lee S, Choi SJ, Oh Sy, Seo JM, Roh CR
- KMID: 2511564
- Obstet Gynecol Sci.
- 2021 Jan;64(1):42-51.
- doi: 10.5468/ogs.20207
Objective We investigated prenatal sonographic characteristics of esophageal atresia (EA) with advancing gestation. We focused on the degree of polyhydramnios and the stomach shape. Methods This study included 27 EA cases... -
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- Perinatal outcome of fetuses with congenital high airway obstruction syndrome: a single-center experience
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Jeong SH, Lee MY, Kang OJ, Kim R, Chung JH, Won HS, Lee PR, Jung E, Lee BS, Choi WJ, Lee YS
- KMID: 2511565
- Obstet Gynecol Sci.
- 2021 Jan;64(1):52-61.
- doi: 10.5468/ogs.20266
Objective To report our experience with management of fetuses with congenital high airway obstruction syndrome (CHAOS). Methods We retrospectively reviewed the cases of fetuses who were prenatally diagnosed and postnatally confirmed... -
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- Cyst Size in Fetuses with Biliary Cystic Malformation: An Exploration of the Etiology of Congenital Biliary Dilatation
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Hattori K, Hamada Y, Sato M
- KMID: 2508525
- Pediatr Gastroenterol Hepatol Nutr.
- 2020 Nov;23(6):531-538.
- doi: 10.5223/pghn.2020.23.6.531
Purpose: Our aim was the longitudinal assessment of cyst size in fetuses with biliary cystic malformation (BCM) to explore its etiology and the possibility of antenatal differentiation between biliary atresia... -
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- Prenatal diagnosis of transposition of the great arteries: an updated review
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Bravo-valenzuela NJ, Peixoto AB, Araujo Júnior E
- KMID: 2506718
- Ultrasonography.
- 2020 Oct;39(4):331-339.
- doi: 10.14366/usg.20055
Simple transposition of the great arteries (TGA) is a cyanotic heart disease that accounts for 5% to 7% of all congenital heart diseases. It is commonly underdiagnosed in utero, with... -
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- Prenatal Genetic Diagnosis of Congenital Nephrotic Syndrome
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Seo JM, Kim SY, Park IY, Chae H, Kim M
- KMID: 2503957
- Perinatology.
- 2020 Jun;31(2):99-102.
- doi: 10.14734/PN.2020.31.2.99
Congenital nephrotic syndrome (CNS) of the Finnish type is an autosomal recessive disorder caused by mutations in the gene encoding nephrin (NPHS1). A 31-year-old primigravida woman from the Philippines was... -
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- Prenatal molecular diagnosis and carrier detection of Duchenne muscular dystrophy in Korea
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Kang MJ, Seong MW, Cho SI, Park JS, Jun JK, Park SS
- KMID: 2503608
- J Genet Med.
- 2020 Jun;17(1):27-33.
- doi: 10.5734/JGM.2020.17.1.27
Purpose: Duchenne muscular dystrophy (DMD) is the most common lethal muscular dystrophy and is caused by the genetic variants of DMD gene. Because DMD is X-linked recessive and shows familial... -
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- Experiences and efficacy of noninvasive prenatal test using maternal plasma in single center: 1,591 cases
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Hong SY, Shim SH, Park HJ, Shim SS, Kim JY, Cho YK, Kim SH, Cha DH
- KMID: 2503605
- J Genet Med.
- 2020 Jun;17(1):11-15.
- doi: 10.5734/JGM.2020.17.1.11
Purpose: The objective of this study was to analyze the results of several noninvasive prenatal tests (NIPTs) from a single center and confirm their efficacy and reliability. In addition, we... -
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- Prenatal diagnosis of harlequin ichthyosis: a case report
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Vijayakumari M, Reddy DK, Routhu M, Vuchuru M, Reddy NS
- KMID: 2467937
- Obstet Gynecol Sci.
- 2020 Jan;63(1):94-97.
- doi: 10.5468/ogs.2020.63.1.94
Harlequin ichthyosis (HI) is a rare and severe form of ichthyosis and is characterized by thickened, hard, armor-like plates of skin that cover the entire body. This disease is caused... -
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- Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study
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Kim D, Kim HJ, You SJ, Yum MS, Ko TS
- KMID: 2470589
- Ann Child Neurol.
- 2019 Dec;27(4):128-134.
- doi: 10.26815/acn.2019.00185
PURPOSE: Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC,... -
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- Fetal Ultrasonography for Prenatal Detection of Tuberous Sclerosis Associated with Cardiac Rhabdomyoma
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Kang MJ, Hong SY, Kwon BY, Jeong JE, Bae JY
- KMID: 2468546
- Perinatology.
- 2019 Dec;30(4):240-243.
- doi: 10.14734/PN.2019.30.4.240
Cardiac rhabdomyoma is common cardiac mass found during the fetal period. Cardiac rhabdomyoma and tuberous sclerosis have significant associations. Tuberous sclerosis in newborns can cause disability in nearly all organs.... -
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- Three Cases of Nasal Chondromesenchymal Hamartoma Occurred in Sinonasal Tract
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Choi Y, Jang YJ, Cho KJ, Chung YS
- KMID: 2466715
- Korean J Otorhinolaryngol-Head Neck Surg.
- 2019 Nov;62(11):651-656.
- doi: 10.3342/kjorl-hns.2018.00815
Nasal chondromesenchymal hamartoma (NCMH) is a rare benign tumor of the sinonasal tract. Most NCMH has a benign nature and can be cured by complete resection. Only a few NCMH... -
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- Pseudo-Single Umbilical Artery by Spontaneous Intrauterine Umbilical Artery Thrombosis
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Baik M, Im SY, Lee G
- KMID: 2460034
- Perinatology.
- 2019 Sep;30(3):183-185.
- doi: 10.14734/PN.2019.30.3.183
Umbilical artery thrombosis is rare event and few prenatally diagnosed cases have been reported. Antenatal diagnosis is very critical, as it is associated with high risk of perinatal motility and... -
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