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The Journal of Maternal-fetal &... Dec 2023Congenital hemangiomas are rare benign vascular tumors but can lead to serious adverse pregnancy outcomes. Its prenatal diagnosis is a challenge. We explored the... (Observational Study)
Observational Study
OBJECTIVES
Congenital hemangiomas are rare benign vascular tumors but can lead to serious adverse pregnancy outcomes. Its prenatal diagnosis is a challenge. We explored the clinical applications of prenatal ultrasound for evaluating fetal cutaneous hemangioma and associated complications.
METHODS
A retrospective observational study was conducted comprising a population of pregnant women with fetal cutaneous hemangioma, the latter diagnosed by prenatal ultrasound, between January 2016 and December 2020. The clinical characteristics, sonographic images, complications, and pregnancy outcomes were documented and analyzed.
RESULTS
We identified 20 cases of fetal cutaneous hemangioma diagnosed by prenatal ultrasound and confirmed by postpartum examinations. Most hemangiomas were in the head and neck (55%), with either solid isoechoicity (25%) or solid mildly hyperechoic (25%), and well-circumscribed (80%) mass. Eight (40%) fetuses experienced complications, which often occurred in fetuses with large hemangiomas (67% with maximum diameter ≥5 cm; 100% with a volume ≥40 cm). The most common complications were cardiac-related (88%), including elevated cardiothoracic area ratio, atrioventricular valve regurgitation, and fetal hydrops. A large hemangioma was usually associated with advanced gestational age and a fast hemangioma growth rate. In five (25%) cases, the pregnancy was terminated; these involved hemangioma of the head or neck. One newborn developed Kasabach-Merritt phenomenon, pulmonary hemorrhage and respiratory distress, and died 3 days after birth. Among the 14 (70%) fetuses that survived birth, all hemangiomas disappeared or regressed after treatments with propranolol, interventional surgery, or observed routinely.
CONCLUSIONS
Prenatal ultrasound examination can accurately diagnose fetal cutaneous hemangioma and related complications to facilitate appropriate management during the pregnancy.
RATIONALE
Prenatal diagnosis of cutaneous hemangiomas is a clinical challenge. Prenatal ultrasound examination could be a method to accurately diagnose and monitor these hemangiomas.
Topics: Infant, Newborn; Pregnancy; Humans; Female; Hemangioma; Prenatal Care; Prenatal Diagnosis; Fetus; Ultrasonography, Prenatal
PubMed: 36521849
DOI: 10.1080/14767058.2022.2157257 -
Ultrasound in Obstetrics & Gynecology :... May 2021To derive accurate estimates of perinatal survival in pregnancies with and without a prenatal diagnosis of vasa previa based on a systematic review of the literature and... (Meta-Analysis)
Meta-Analysis
OBJECTIVES
To derive accurate estimates of perinatal survival in pregnancies with and without a prenatal diagnosis of vasa previa based on a systematic review of the literature and meta-analysis.
METHODS
A search of MEDLINE, EMBASE and The Cochrane Library was performed to review relevant citations reporting on the perinatal outcomes of pregnancies with vasa previa. We included prospective and retrospective cohort and population studies that provided data on pregnancies with a prenatal diagnosis of vasa previa or cases diagnosed at birth or following postnatal placental examination. Meta-analysis using a random-effects model was performed to derive weighted pooled estimates of perinatal survival (excluding stillbirths and neonatal deaths) and intact perinatal survival (additionally excluding hypoxic morbidity). Incidence rate difference (IRD) meta-analysis was used to estimate the significance of differences in pooled proportions between cases of vasa previa with and those without a prenatal diagnosis. Heterogeneity between studies was estimated using Cochran's Q and the I statistic.
RESULTS
We included 21 studies reporting on the perinatal outcomes of 683 pregnancies with a prenatal diagnosis of vasa previa. There were three stillbirths (1.01% (95% CI, 0.40-1.87%)), five neonatal deaths (1.19% (95% CI, 0.52-2.12%)) and 675 surviving neonates, resulting in a pooled estimate for perinatal survival of 98.6% (95% CI, 97.6-99.3%). Based on seven studies that included cases of vasa previa with and without a prenatal diagnosis, the pooled perinatal survival in pregnancies without a prenatal diagnosis (61/118) was 72.1% (95% CI, 50.6-89.4%) vs 98.6% (95% CI, 96.7-99.7%) in cases with a prenatal diagnosis (224/226). Therefore, the risk of perinatal death was 25-fold higher when a diagnosis of vasa previa was not made antenatally, compared with when it was (odds ratio (OR), 25.39 (95% CI, 7.93-81.31); P < 0.0001). Similarly, the risk of hypoxic morbidity was increased 50-fold in cases with vasa previa without a prenatal diagnosis compared with those with a prenatal diagnosis (36/61 vs 5/224; OR, 50.09 (95% CI, 17.33-144.79)). The intact perinatal survival rate in cases of vasa previa without a prenatal diagnosis was significantly lower than in those with a prenatal diagnosis (28.1% (95% CI, 14.1-44.7%) vs 96.7% (95% CI, 93.6-98.8%)) (IRD, 73.4% (95% CI, 53.9-92.7%); Z = -7.4066, P < 0.001).
CONCLUSIONS
Prenatal diagnosis of vasa previa is associated with a high rate of perinatal survival, whereas lack of an antenatal diagnosis significantly increases the risk of perinatal death and hypoxic morbidity. Further research should be undertaken to investigate strategies for incorporating prenatal screening for vasa previa into routine clinical practice. © 2020 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Topics: Female; Humans; Infant, Newborn; Perinatal Mortality; Pregnancy; Pregnancy Outcome; Prenatal Diagnosis; Prospective Studies; Retrospective Studies; Vasa Previa
PubMed: 32735754
DOI: 10.1002/uog.22166 -
BMC Medical Genomics Dec 2023This study is a retrospective analysis of the prenatal genetic diagnosis results of 1408 foetuses at high risk of DMD/BMD to provide information for clinical genetic...
OBJECTIVE
This study is a retrospective analysis of the prenatal genetic diagnosis results of 1408 foetuses at high risk of DMD/BMD to provide information for clinical genetic counselling.
BACKGROUND
Duchenne muscular dystrophy (DMD) is a severe neuromuscular disorder characterized by skeletal and cardiac muscle weakness. With the deepening of disease research, some treatments have been applied in clinics. Therefore, early and accurate prenatal diagnosis can inform pregnancy choices for high-risk families.
METHODS
A total of 1316 unrelated DMD/BMD families with confirmed genetic diagnoses were recruited from the Genetic and Prenatal Diagnosis Center of the First Affiliated Hospital of Zhengzhou University. Prenatal diagnosis of 1408 high-risk foetuses was performed by MLPA and Sanger sequencing combined with STR linkage analysis for all families.
RESULTS
Among the 1316 families, large deletions, duplications, and small variants of the DMD gene accounted for 70.4% (927/1316), 8.2% (108/1316), and 21.4% (281/1316), respectively. Among 1316 mothers, 863 (65.6%) were carriers, and 453 (34.4%) were not carriers. The rate of de novo variants was 34.4% (453/1316) in our study. In addition, gonadal mosaicism was observed in 11 pregnant females. Prenatal diagnosis was provided for 1408 high-risk foetuses; 282 foetuses were identified as male patients, 219 foetuses were female carriers, and the remainder had normal genetics. The results of prenatal diagnosis were consistent with the results of follow-up.
CONCLUSIONS
Accurate and rapid prenatal diagnosis can be achieved using MLPA, Sanger sequencing, and STR linkage analysis. Furthermore, germline mosaicism in DMD should not be ignored; considering this, a prenatal diagnosis for all pregnant women with a family history of DMD/BMD regardless of whether they carried disease-causing variants is proposed. Genetic counselling and targeted prenatal diagnosis will continue to be a cornerstone of DMD/BMD family management in the future.
Topics: Humans; Male; Female; Pregnancy; Retrospective Studies; Exons; Multiplex Polymerase Chain Reaction; Prenatal Diagnosis; Muscular Dystrophy, Duchenne; Fetus
PubMed: 38041114
DOI: 10.1186/s12920-023-01746-x -
Fetal Diagnosis and Therapy 2022Prenatal diagnosis of thalassemia disease was usually based on invasive technique. Noninvasive diagnosis using cell-free fetal DNA (cff-DNA) was described with various...
INTRODUCTION
Prenatal diagnosis of thalassemia disease was usually based on invasive technique. Noninvasive diagnosis using cell-free fetal DNA (cff-DNA) was described with various laboratory techniques. The aim of this study was to identify the performance of dPCR for analyzing cff-DNA in maternal plasma to diagnose fetal beta-thalassemia diseases.
METHODS
Thirty-five couples at risk of fetal beta-thalassemia disease caused by four common mutations of HBB were enrolled at 12-18 weeks. The dPCR assay was designed to detect and quantify paternally inherited beta-thalassemia allele (PIB) and maternally inherited beta-thalassemia allele (MIB) from cff-DNA in maternal plasma.
RESULTS
Of 29 couples with different paternal/maternal mutations, all cases who inherited paternal mutation had detectable PIB-M. The MIB-mutant/wild-type (MIB-M/MIB-N) ratio in the mothers whose fetuses did not inherit maternal mutation was 0.87 ± 0.07 which was significantly lower than that of the mothers whose fetuses inherited maternal mutation, 1.01 ± 0.05. The sensitivity and specificity of MIB-M/MIB-N ratio >0.95 in predicting fetus inheriting maternal mutation were 100 and 92.3%, respectively. In four couples with same paternal/maternal mutation, IB-M/IB-N ratio of >0.95 correctly predicted the presence of an inheritance of at least one beta-thalassemia allele. In two couples with paternal Hb E/beta-thalassemia, the presence of PIB-M and the MIB-M/MIB-N ratio of >0.95 correctly predicted the presence of paternal/maternal mutations, respectively.
CONCLUSIONS
The method of analyzing cff-DNA in maternal plasma by dPCR is efficient for prenatal diagnosis of beta-thalassemia.
Topics: Pregnancy; Female; Humans; beta-Thalassemia; Noninvasive Prenatal Testing; Cell-Free Nucleic Acids; DNA; Prenatal Diagnosis; Fetus; Fetal Diseases; Polymerase Chain Reaction
PubMed: 36574763
DOI: 10.1159/000528033 -
Ginekologia Polska 2023This case series describes our experience with a prenatal diagnosis of fetal perineal masses. We propose a clinical-sonographic approach for prenatal workup in cases...
This case series describes our experience with a prenatal diagnosis of fetal perineal masses. We propose a clinical-sonographic approach for prenatal workup in cases presenting perineal findings based on imaging the target sign at the posterior perineal triangle, the fetal genitalia, and sacrum. Targeted, structured prenatal anatomical scan in fetuses presenting with perineal masses may aid in the prenatal differential diagnosis and enable appropriate genetic analysis, prenatal counseling, and postnatal treatment.
Topics: Pregnancy; Female; Humans; Ultrasonography, Prenatal; Diagnosis, Differential; Prenatal Diagnosis; Prenatal Care; Fetus; Retrospective Studies
PubMed: 36597749
DOI: 10.5603/GP.a2022.0157 -
Taiwanese Journal of Obstetrics &... Nov 2020To retrospectively analyze the incidence of chromosomal polymorphisms in prenatal cytogenetic diagnostic cases and the effect of the clinical manifestation of these...
OBJECTIVE
To retrospectively analyze the incidence of chromosomal polymorphisms in prenatal cytogenetic diagnostic cases and the effect of the clinical manifestation of these fetuses.
MATERIALS AND METHODS
490 fetuses with chromosomal polymorphisms among 9996 pregnant women who underwent prenatal cytogenetic diagnosis were included in this study and were set as group 1. Other 500 pregnant women, whose fetuses were with normal karyotypes, were randomly selected from the remaining pregnant women and set as group 2. Clinical information and outcomes and maternal serum screening results of group 1 were compared with group 2.
RESULTS
The frequency of fetal chromosomal polymorphism was 4.90% (490/9996). The most common variants observed were 1/9/16 qh± (2.27%, 227/9996), followed by inv(9) (0.90%, 90/9996). 94.62% (264/279) of fetal chromosomal variants were inherited from parents. No statistical difference was found in clinical information and outcomes and maternal serum screening results between group 1 and group 2.
CONCLUSION
The fetus with chromosomal polymorphism has no impact on serum markers of second trimester screening and does not play an important role for the clinical outcome of the current pregnancy either, whether it is inherited from the parents or a de novo mutation.
Topics: Adult; Amniocentesis; China; Chromosome Aberrations; Cytogenetic Analysis; Female; Fetal Diseases; Humans; Incidence; Maternal Serum Screening Tests; Polymorphism, Genetic; Pregnancy; Pregnancy Trimester, Second; Prenatal Diagnosis; Retrospective Studies
PubMed: 33218411
DOI: 10.1016/j.tjog.2020.09.019 -
Revista Da Associacao Medica Brasileira... Nov 2020Asymmetric or heteropagus conjoined twins is a rare occurrence, with an incidence of one case in 1-2 million. Conjoined twins are classified according to their symmetry,...
BACKGROUND
Asymmetric or heteropagus conjoined twins is a rare occurrence, with an incidence of one case in 1-2 million. Conjoined twins are classified according to their symmetry, place of fusion, and grade of duplication.
METHODS
We report here an extremely rare presentation of parasitic twins not described before. We describe macro and micro anatomic alterations and discuss the aspects of this peculiar presentation and the importance of prenatal diagnosis.
RESULTS
The case of a twenty-three-year-old patient, with monochorionic, monoamniotic asymmetrically-conjoined twin pregnancy, discovered at 29 weeks of gestational age. We believe that this report calls attention to this presentation and the importance of prenatal care and management. The twins were delivered vaginally without life. The twins' combined weight was 1.300 gr. They were bonded in the left cervical region.
CONCLUSION
This report may help to find strategies for clinical decisions in future cases. Antepartum diagnosis is important to the management, preoperative planning, and outcomes. Prenatal imaging exams like echocardiography, CT, MRI, and ultrasonography are feasible and can provide relevant information about malformation severity and prognosis.
Topics: Female; Humans; Pregnancy; Pregnancy, Twin; Prenatal Diagnosis; Twins; Twins, Conjoined; Ultrasonography, Prenatal; Young Adult
PubMed: 33295404
DOI: 10.1590/1806-9282.66.11.1526 -
The Australian & New Zealand Journal of... Dec 2022Non-invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where...
BACKGROUND
Non-invasive prenatal screening (NIPS) is being increasingly used by expectant parents. Much provision of this test in Australia is occurring in clinical settings where specialised genetic counselling is unavailable, such as general practice. Potential psychosocial consequences from this kind of prenatal genetic screening remain largely unexplored.
AIMS
To explore clinicians' experiences with NIPS for aneuploidy, their perspectives of the benefits and harms of NIPS, clinicians' information needs, and their perceptions of the needs of expectant parents.
MATERIALS AND METHODS
Qualitative, semi-structured interviews with 17 health professionals (clinical geneticists, obstetricians, genetic counsellors and general practitioners) who request and counsel for NIPS in Australian hospital and private practice settings, conducted between June 2019 and February 2020.
RESULTS
Five themes were identified relating to clinicians' perceptions and experiences of NIPS in their practice: perceived benefits of NIPS, perceived harms of NIPS (with two subthemes: clinical harms and psychosocial harms), financial and equity-related concerns, counselling as a protective buffer against perceived harms, and clinicians' unmet education needs. While clinicians view NIPS as a useful and high-quality screening test, especially for detection of common trisomies, many participants had concerns about how NIPS has been implemented in practice, particularly the quality (and often absence) of pre-/post-test counselling and the routinisation of testing for sex chromosome aneuploidies, microdeletion and microduplication syndromes.
CONCLUSION
These findings support the need for targeted clinician training around NIPS, and for a shared decision-making approach to support expectant parents' autonomous decisions about NIPS.
Topics: Female; Humans; Pregnancy; Aneuploidy; Australia; Genetic Testing; Prenatal Diagnosis
PubMed: 35538635
DOI: 10.1111/ajo.13533 -
International Journal of Molecular... Nov 2022The risk of chromosomal abnormalities in the child increases with increasing maternal age. Although non-invasive prenatal testing (NIPT) is a safe and effective prenatal...
The risk of chromosomal abnormalities in the child increases with increasing maternal age. Although non-invasive prenatal testing (NIPT) is a safe and effective prenatal screening method, the accuracy of the test results needs to be improved owing to various testing conditions. We attempted to achieve a more accurate and robust prediction of chromosomal abnormalities by combining multiple methods. Here, three different methods, namely standard Z-score, normalized chromosome value, and within-sample reference bin, were used for 1698 reference and 109 test samples of whole-genome sequencing. The logistic regression model combining the three methods achieved a higher accuracy than any single method. In conclusion, the proposed method offers a promising approach for increasing the reliability of NIPT.
Topics: Pregnancy; Female; Child; Humans; Reproducibility of Results; Prenatal Diagnosis; Chromosome Aberrations; Maternal Age; Trisomy; Aneuploidy
PubMed: 36499318
DOI: 10.3390/ijms232314990 -
The Indian Journal of Medical Research May 2023Non-invasive prenatal testing (NIPT) of maternally inherited alleles of β-thalassaemia (MIB) remains to be a challenge. Furthermore, current techniques are not...
BACKGROUND & OBJECTIVES
Non-invasive prenatal testing (NIPT) of maternally inherited alleles of β-thalassaemia (MIB) remains to be a challenge. Furthermore, current techniques are not available for use as routine tests. NIPT for β-thalassaemia disease was developed by using a specific droplet digital polymerase chain reaction (ddPCR) assay to analyze the cell-free foetal DNA (cffDNA) derived from maternal plasma.
METHODS
Pregnant women and their spouses who are at risk of bearing an offspring with β-thalassaemia disease from common MIB mutations (CD 41/42-TCTT, CD17A>T, IVS1-1G>T and CD26G>A) were enrolled. The ddPCR assay sets were constructed for each of the four mutations. All cell-free DNA samples were first screened for the paternally inherited β-thalassaemia (PIB) mutation. The PIB-negative samples were considered as non-disease and were not further analyzed. For PIB-positive samples, DNA fragments of 50-300 base pairs in size were isolated and purified, and further analyzed for MIB mutation. The allelic ratio between the mutant and the wild-type was used to determine the presence of MIB in cffDNA. All cases underwent a prenatal diagnosis by amniocentesis for a definite diagnosis.
RESULTS
Forty two couples at risk were enrolled. Twenty two samples were positive for PIBs. Among these 22 samples, there were 10 cases with allelic ratio >1.0 (MIB positive). All foetuses with over-represented mutant alleles were further diagnosed with β-thalassaemia disease; eight with compound heterozygous and two with homozygous mutations. The 20 PIB-negative and 12 MIB-negative foetuses were non-affected.
INTERPRETATION & CONCLUSIONS
The results of this study suggest that NIPT utilizing the ddPCR assay can be effectively used for the screening and diagnosis of foetal β-thalassaemia in at risk pregnancies.
Topics: Humans; Pregnancy; Female; beta-Thalassemia; Prenatal Diagnosis; Genetic Testing; DNA; Fetus
PubMed: 37322635
DOI: 10.4103/ijmr.IJMR_3226_20