Abstract
Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes.
| Original language | English |
|---|---|
| Pages (from-to) | 834-837 |
| Number of pages | 4 |
| Journal | Prenatal Diagnosis |
| Volume | 18 |
| Issue number | 8 |
| DOIs | |
| Publication status | Published - Aug 1998 |
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Keywords
- Fetal blood sampling
- Genetic syndromes
- Prenatal diagnosis
ASJC Scopus subject areas
- Genetics(clinical)
- Obstetrics and Gynaecology
Cite this
Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling. / Lalatta, Faustina; Salmona, Sarah; Fogliani, Roberto; Rizzuti, Tommaso; Nicolini, Umberto.
In: Prenatal Diagnosis, Vol. 18, No. 8, 08.1998, p. 834-837.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Prenatal diagnosis of genetic syndromes may be facilitated by serendipitous findings at fetal blood sampling
AU - Lalatta, Faustina
AU - Salmona, Sarah
AU - Fogliani, Roberto
AU - Rizzuti, Tommaso
AU - Nicolini, Umberto
PY - 1998/8
Y1 - 1998/8
N2 - Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes.
AB - Two women without a specific risk had fetuses with multiple malformations diagnosed by ultrasound; extensive biochemical investigations on fetal blood revealed clues which would have allowed the correct diagnosis of a genetic condition: Pallister-Killian syndrome in one with increased fetal LDH, and Smith-Lemli-Opitz type II syndrome in the other with low fetal cholesterolaemia. When compared with chorionic villus sampling and amniocentesis, rapid karyotyping in women with multiple fetal malformations by fetal blood sampling allows the collection of additional data which may lead to the diagnosis of specific genetic syndromes.
KW - Fetal blood sampling
KW - Genetic syndromes
KW - Prenatal diagnosis
UR - http://www.scopus.com/inward/record.url?scp=0031822038&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0031822038&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1097-0223(199808)18:8<834::AID-PD340>3.0.CO;2-6
DO - 10.1002/(SICI)1097-0223(199808)18:8<834::AID-PD340>3.0.CO;2-6
M3 - Article
C2 - 9742573
AN - SCOPUS:0031822038
VL - 18
SP - 834
EP - 837
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
SN - 0197-3851
IS - 8
ER -