Detalhe da pesquisa
1.
Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age.
Am J Obstet Gynecol
; 230(3): 368.e1-368.e12, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-37717890
2.
A novel NONO nonsense variant in a fetus with renal abnormalities.
Prenat Diagn
; 44(1): 77-80, 2024 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-38110236
3.
Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.
Prenat Diagn
; 44(4): 422-431, 2024 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-38054560
4.
Diagnostic yield of exome sequencing in isolated fetal growth restriction: Systematic review and meta-analysis.
Prenat Diagn
; 43(5): 596-604, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36869857
5.
Economic impact of using maternal plasma cell-free DNA testing to guide further workup in recurrent pregnancy loss.
Prenat Diagn
; 41(10): 1215-1221, 2021 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-34002411
6.
Perinatal outcome after selective termination in dichorionic twins discordant for congenital anomalies.
Acta Obstet Gynecol Scand
; 100(11): 2029-2035, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34472083
7.
Cell-Free DNA Testing: What Is the Reason Why High-Risk Women Choose It?
Fetal Diagn Ther
; 48(1): 9-14, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-32906126
8.
Significance of Low Maternal Serum Β-hCG Levels in the Assessment of the Risk of Atypical Chromosomal Abnormalities.
Fetal Diagn Ther
; 48(11-12): 849-856, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34872079
9.
Next-Generation Sequencing Gene Panels and "Solo" Clinical Exome Sequencing Applied in Structurally Abnormal Fetuses.
Fetal Diagn Ther
; 48(10): 746-756, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34775388
10.
Chromosome microarray analysis should be offered to all invasive prenatal diagnostic testing following a normal rapid aneuploidy test result.
Clin Genet
; 98(4): 379-383, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32632923
11.
Maternal plasma genome-wide cell-free DNA can detect fetal aneuploidy in early and recurrent pregnancy loss and can be used to direct further workup.
Hum Reprod
; 35(5): 1222-1229, 2020 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32386059
12.
Genetic syndromes associated with isolated fetal growth restriction.
Prenat Diagn
; 40(4): 432-446, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31891188
13.
Cytogenetic Investigation in 136 Consecutive Stillbirths: Does the Tissue Type Affect the Success Rate of Chromosomal Microarray Analysis and Karyotype?
Fetal Diagn Ther
; 47(4): 315-320, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31955157
14.
Is Cisterna Magna Width a Useful First-Trimester Marker of Aneuploidy?
Fetal Diagn Ther
; 47(6): 457-463, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-31694020
15.
Sonologist's characteristics related to a higher quality in fetal nuchal translucency measured in primary antenatal care centers.
Prenat Diagn
; 39(10): 934-939, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31237971
16.
Parental Origin of the Retained X Chromosome in Monosomy X Miscarriages and Ongoing Pregnancies.
Fetal Diagn Ther
; 45(2): 118-124, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-28977787
17.
Prenatal screening for Down syndrome in twin pregnancies: Estimates of screening performance based on 61 affected and 7302 unaffected twin pregnancies.
Prenat Diagn
; 38(13): 1079-1085, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30367479
18.
Chromosomal Microarray Analysis in Fetuses with Growth Restriction and Normal Karyotype: A Systematic Review and Meta-Analysis.
Fetal Diagn Ther
; 44(1): 1-9, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-28889126
19.
Overview of Chromosome Abnormalities in First Trimester Miscarriages: A Series of 1,011 Consecutive Chorionic Villi Sample Karyotypes.
Cytogenet Genome Res
; 152(2): 81-89, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28662500
20.
Crown-rump length audit plots with the use of operator-specific PAPP-A and ß-hCG median MoM.
Prenat Diagn
; 37(3): 229-234, 2017 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-28006080