Prenatally diagnosed omphaloceles : Report of 92 cases and association with Beckwith-Wiedemann syndrome
© 2021 John Wiley & Sons Ltd..
OBJECTIVE: Describe the prevalence, perinatal and long-term outcomes of Beckwith-Wiedemann syndrome (BWS) among prenatally detected omphaloceles.
METHODS: All prenatally diagnosed omphaloceles from 2010 to 2015 within a single tertiary care centre were identified. An echocardiogram and detailed fetal ultrasound were performed, and amniocentesis was offered with karyotype/microarray analysis and BWS molecular testing. Perinatal, neonatal, and long-term outcomes were retrieved for BWS cases.
RESULTS: Among 92 omphaloceles, 62 had additional anomalies. Abnormal karyotypes were identified in 23/62 (37%) non-isolated and 2/30 (7%) isolated cases. One BWS case (5%) was identified among non-isolated omphaloceles and six BWS cases (37.5%) were identified among isolated omphaloceles after exclusion of aneuploidy. Among 19 BWS cases, 21% were conceived by ART. All omphaloceles underwent primary closure. Prenatally, macrosomia and polyhydramnios were seen in 42%. Macroglossia and nephromegaly were more commonly detected postnatally. Preterm birth occurred in 10/19 (53%) cases and cesarean deliveries were performed in 7/19 (40%) cases. Overall mortality was 20% (4/19). Embryonal tumors were diagnosed in 2/16 (12.5%) children, and neurodevelopmental outcomes were normal in 9/12 (75%) survivors.
CONCLUSIONS: After excluding aneuploidy, BWS was identified in 37.5% and 5% of isolated and non-isolated omphaloceles, respectively. Omphaloceles were small-moderate size with good long-term surgical and neurodevelopmental outcomes when isolated.
| Errataetall: |
CommentIn: Prenat Diagn. 2021 Jun;41(7):795-797. - PMID 34008861 |
|---|---|
| Medienart: |
E-Artikel |
| Erscheinungsjahr: |
2021 |
|---|---|
| Erschienen: |
2021 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:41 |
|---|---|
| Enthalten in: |
Prenatal diagnosis - 41(2021), 7 vom: 09. Juni, Seite 798-816 |
| Sprache: |
Englisch |
|---|
| Beteiligte Personen: |
Abbasi, Nimrah [VerfasserIn] |
|---|
| Links: |
|---|
| Themen: |
Beckwith-Wiedemann syndrome |
|---|
| Anmerkungen: |
Date Completed 14.12.2021 Date Revised 14.12.2021 published: Print-Electronic CommentIn: Prenat Diagn. 2021 Jun;41(7):795-797. - PMID 34008861 Citation Status MEDLINE |
|---|
| doi: |
10.1002/pd.5930 |
|---|
| funding: |
|
|---|---|
| Förderinstitution / Projekttitel: |
|
| PPN (Katalog-ID): |
NLM32244232X |
|---|
| LEADER | 01000naa a22002652 4500 | ||
|---|---|---|---|
| 001 | NLM32244232X | ||
| 003 | DE-627 | ||
| 005 | 20231225182041.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 231225s2021 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1002/pd.5930 |2 doi | |
| 028 | 5 | 2 | |a pubmed24n1074.xml |
| 035 | |a (DE-627)NLM32244232X | ||
| 035 | |a (NLM)33687072 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rakwb | ||
| 041 | |a eng | ||
| 100 | 1 | |a Abbasi, Nimrah |e verfasserin |4 aut | |
| 245 | 1 | 0 | |a Prenatally diagnosed omphaloceles |b Report of 92 cases and association with Beckwith-Wiedemann syndrome |
| 264 | 1 | |c 2021 | |
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a ƒaComputermedien |b c |2 rdamedia | ||
| 338 | |a ƒa Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Date Completed 14.12.2021 | ||
| 500 | |a Date Revised 14.12.2021 | ||
| 500 | |a published: Print-Electronic | ||
| 500 | |a CommentIn: Prenat Diagn. 2021 Jun;41(7):795-797. - PMID 34008861 | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a © 2021 John Wiley & Sons Ltd. | ||
| 520 | |a OBJECTIVE: Describe the prevalence, perinatal and long-term outcomes of Beckwith-Wiedemann syndrome (BWS) among prenatally detected omphaloceles | ||
| 520 | |a METHODS: All prenatally diagnosed omphaloceles from 2010 to 2015 within a single tertiary care centre were identified. An echocardiogram and detailed fetal ultrasound were performed, and amniocentesis was offered with karyotype/microarray analysis and BWS molecular testing. Perinatal, neonatal, and long-term outcomes were retrieved for BWS cases | ||
| 520 | |a RESULTS: Among 92 omphaloceles, 62 had additional anomalies. Abnormal karyotypes were identified in 23/62 (37%) non-isolated and 2/30 (7%) isolated cases. One BWS case (5%) was identified among non-isolated omphaloceles and six BWS cases (37.5%) were identified among isolated omphaloceles after exclusion of aneuploidy. Among 19 BWS cases, 21% were conceived by ART. All omphaloceles underwent primary closure. Prenatally, macrosomia and polyhydramnios were seen in 42%. Macroglossia and nephromegaly were more commonly detected postnatally. Preterm birth occurred in 10/19 (53%) cases and cesarean deliveries were performed in 7/19 (40%) cases. Overall mortality was 20% (4/19). Embryonal tumors were diagnosed in 2/16 (12.5%) children, and neurodevelopmental outcomes were normal in 9/12 (75%) survivors | ||
| 520 | |a CONCLUSIONS: After excluding aneuploidy, BWS was identified in 37.5% and 5% of isolated and non-isolated omphaloceles, respectively. Omphaloceles were small-moderate size with good long-term surgical and neurodevelopmental outcomes when isolated | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Beckwith-Wiedemann syndrome | |
| 650 | 4 | |a genetic counseling | |
| 650 | 4 | |a omphaloceles | |
| 650 | 4 | |a prenatal diagnosis | |
| 700 | 1 | |a Moore, Aideen |e verfasserin |4 aut | |
| 700 | 1 | |a Chiu, Priscilla |e verfasserin |4 aut | |
| 700 | 1 | |a Ryan, Greg |e verfasserin |4 aut | |
| 700 | 1 | |a Weksberg, Rosanna |e verfasserin |4 aut | |
| 700 | 1 | |a Shuman, Cheryl |e verfasserin |4 aut | |
| 700 | 1 | |a Steele, Leslie |e verfasserin |4 aut | |
| 700 | 1 | |a Chitayat, David |e verfasserin |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Prenatal diagnosis |d 1980 |g 41(2021), 7 vom: 09. Juni, Seite 798-816 |w (DE-627)NLM012597317 |x 1097-0223 |7 nnns |
| 773 | 1 | 8 | |g volume:41 |g year:2021 |g number:7 |g day:09 |g month:06 |g pages:798-816 |
| 856 | 4 | 0 | |u http://dx.doi.org/10.1002/pd.5930 |3 Volltext |
| 912 | |a GBV_USEFLAG_A | ||
| 912 | |a GBV_NLM | ||
| 951 | |a AR | ||
| 952 | |d 41 |j 2021 |e 7 |b 09 |c 06 |h 798-816 | ||