- An Unusual Hydrops Fetalis Associated with Compound Heterozygosity for Krüppel-like Factor 1 mutations. [Case Reports]
- HHemoglobin 2016; 40(6):431-434
- Hydrops fetalis is commonly due to Hb Bart's (γ4) disease in South East Asia. Here, we report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compo...
Hydrops fetalis is commonly due to Hb Bart's (γ4) disease in South East Asia. Here, we report an unusual case of hydrops fetalis due to congenital dyserythropoietic anemia (CDA) associated with compound heterozygosity for Krüppel-like factor 1 (KLF1) gene mutations. Fetal cardiomegaly was first detected on routine mid-trimester scan in a pregnant woman with normal mean corpuscular volume (MCV) and Rhesus positive status. The fetus subsequently developed hydrops fetalis, and cordocentesis showed severe fetal anemia with a hemoglobin (Hb) level of 3.4 g/dL. Common causes of fetal anemia including Hb Bart's disease, parvovirus infection, and red cell antibodies were excluded. In view of the marked increase in erythroblasts at various stages of erythropoiesis, the diagnosis of CDA was suspected. We screened the couple for previously reported KLF1 gene mutations, showing that the mother was heterozygous for the c.525_526insCGGCGCC, p.Gly176Argfs*179 mutation, and her husband heterozygous for c.1012C>A, p.Pro338Thr mutation. The fetus was a compound heterozygote for these two KLF1 mutations. After counseling, repeated intrauterine transfusions were given at 27, 29, and 34 weeks' gestation; the hydrops fetalis was resolved. The baby was delivered at 34 weeks' gestation and required monthly blood transfusions but was otherwise thriving. Bone marrow aspiration at 10 months of age showed the features of ineffective erythropoiesis, compatible with CDA. In conclusion, hydrops fetalis can rarely be due to CDA associated with a compound heterozygous mutation for KLF1 gene mutations, and be managed by repeated intrauterine transfusions. Our present report adds to the wide clinical spectrum of KLF1 mutations.
- Management and Outcomes of Fetal Hydrops in a Tertiary Care Centre in Singapore. [Journal Article]
- AAAnn Acad Med Singapore 2017; 46(1):4-10
- Introduction: Fetal hydrops is a serious condition which can be caused by immune and non-immune aetiologies. We aimed to review the management of fetal hydrops at our hospital. Materials and Methods:...
Introduction: Fetal hydrops is a serious condition which can be caused by immune and non-immune aetiologies. We aimed to review the management of fetal hydrops at our hospital. Materials and Methods: A retrospective review of all cases of fetal hydrops diagnosed in our institution from 2006 to 2013 was carried out. Results: Out of the 30 cases of fetal hydrops diagnosed antenatally, 17 were cases of Bart's hydrops which were all terminated in-utero. Of the remaining 13 cases, 11 cases consisted of non-immune causes of hydrops. Planned antenatal interventions including in-utero blood transfusions (n = 4) and thoracentesis (n = 5) as well as planned caesarean deliveries (n = 11) were performed in the majority of cases. Postnatal neonatal intensive care with interventions including chest drainage and transfusions were also performed. A majority, 92%, of the cases survived the perinatal period following a variable length of hospital stay ranging from a week to 3 months. Conclusion: Management of fetal hydrops is complex. Close coordination between the obstetric and neonatal teams was the key to good short-term survival of neonates with antenatally diagnosed hydrops, as it allows timely antenatal intervention and anticipation of potential perinatal complications.
- [Ebstein's anomaly revealed by fetal-placental anasarca. Original case study]. [Case Reports]
- PAPan Afr Med J 2016; 24:279
- Ebstein's anomaly is a congenital heart defect rarely revealed by fetal-placental anasarca. Our study reports an original case of Ebstein's anomaly diagnosed during fetal-placental anasarca assessmen...
Ebstein's anomaly is a congenital heart defect rarely revealed by fetal-placental anasarca. Our study reports an original case of Ebstein's anomaly diagnosed during fetal-placental anasarca assessment, revealed by antenatal ultrasound, objectifying hydramnios, ascites and pericardial effusion. Echocardiography allowed the identification of Ebstein's disease with significant tricuspid insufficiency, mitral regurgitation (grade 3) and patent ductus arteriosus. The closure of the ductus arteriosus associated with the decrease of pulmonary resistance using optimal ventilation allowed hemodynamic improvement and patient survival.
- Fetal hemodynamics and adverse outcome in primary school-aged children with fetal growth restriction: a prospective longitudinal study. [Journal Article]
- AOActa Obstet Gynecol Scand 2017; 96(1):69-77
- CONCLUSIONS: Absent or reversed end-diastolic flow in the umbilical artery, reversed A-wave in the ductus venosus, cardiomegaly, hydrops, and low cardiovascular profile score are associated with adverse outcomes at primary school age in fetal growth restriction children. These fetal parameters play a significant role in the prediction of long-term outcomes for fetal growth restriction children.
- Fetal cytomegalovirus infection. [Review]
- BPBest Pract Res Clin Obstet Gynaecol 2017; 38:97-107
- Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. However, systematic screening for t...
Cytomegalovirus (CMV) congenital infection affects 0.7% of live births worldwide and is the leading cause of congenital neurological handicap of infectious origin. However, systematic screening for this infection has not been implemented in pregnancy or at birth in any country. This apparent paradox had been justified by persisting gaps in the knowledge of this congenital infection: uncertain epidemiological data, difficulty in the diagnosis of maternal infection, absence of validated prenatal prognostic markers, unavailability of an efficient vaccine and scarcity of data available on the treatment. However, in the last decade, new data have emerged towards better management of this congenital infection, including solid epidemiological data, good evidence for the accuracy of diagnosis of maternal CMV infection and good evidence for the feasibility of predicting the outcome of fetal infection by a combination of fetal imaging and fetal laboratory parameters. There is also some evidence that valaciclovir treatment of mothers carrying an infected fetus is feasible, safe and might be effective. This review provides an update on the evidence for diagnosis, prognosis and treatment of congenital infection in the antenatal period. These suggest a benefit to a proactive approach for prenatal congenital infections.
- Spontaneous resolution of mirror syndrome following fetal interventions for fetal anemia as a consequence of twin to twin transfusion syndrome. [Case Reports]
- EJEur J Obstet Gynecol Reprod Biol 2017; 208:110-111
- Invasive prenatal diagnosis of fetal thalassemia. [Review]
- BPBest Pract Res Clin Obstet Gynaecol 2017; 39:41-52
- Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of t...
Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester. Molecular diagnosis, which includes multiple techniques that are aimed at the detection of mutations in the α- or β-globin genes, facilitates prenatal diagnosis and definitive diagnosis of the fetus. These are valuable procedures for couples at risk, so that they can be offered options to have healthy offspring. According to local practices and legislation, genetic counseling should accompany the invasive diagnostic procedures, DNA testing, and disclosure of the results. The most critical issue in any type of prenatal molecular testing is maternal cell contamination (MCC), especially when a fetus is found to inherit a particular mutation from the mother. The best practice is to perform MCC studies on all prenatal samples. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal testing that is non-invasive for the fetus and result in significant reduction of invasive diagnostic procedures.
- Update in the genetics of thalassemia: What clinicians need to know. [Review]
- BPBest Pract Res Clin Obstet Gynaecol 2017; 39:3-15
- Thalassemia is a significant health problem worldwide. Prenatal diagnosis is the only effective way to prevent the birth of a fetus with severe thalassemias, which include hemoglobin Bart's hydrops f...
Thalassemia is a significant health problem worldwide. Prenatal diagnosis is the only effective way to prevent the birth of a fetus with severe thalassemias, which include hemoglobin Bart's hydrops fetalis and thalassemia major. However, accurate prenatal diagnosis depends on the comprehensive consideration of the molecular basis of thalassemias. To make a correct decision, the obstetrician should have a certain understanding of the genetics of thalassemias. Here we present a brief introduction of some fundamental genetic knowledge of thalassemias, including the production of hemoglobin, structure and location of globin genes, hemoglobin switch, epidemiology, clinical classification, molecular and cellular pathology, genotype-phenotype correlation, and genetic modifiers. Furthermore, some unusual clinical cases that cannot be explained by Mendel's laws are described. On the basis of a thorough understanding of the above information, clinicians should have the ability to precisely diagnose thalassemia patients and provide applicable genetic counselling to the affected families.
- Pre-implantation genetic diagnosis. [Review]
- BPBest Pract Res Clin Obstet Gynaecol 2017; 39:74-88
- The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro ...
The aim of pre-implantation genetic diagnosis (PGD) is to characterize the genetic status of the cells (usually single cells) that have been biopsied from oocytes/zygotes or embryos created in vitro during assisted reproductive treatment. PGD is a multi-step procedure that requires close collaboration between gynaecologists who are experts in assisted reproduction, embryologists who are experts in micromanipulation of germ cells and in embryo biopsy and geneticists who are experts in genetic analysis at the single-cell level. PGD can be applied as a form of early pre-natal diagnosis with the aim to establish a pregnancy unaffected by a haemoglobinopathy. In addition, PGD can identify embryos that are human leukocyte antigen compatible with an existing sibling affected by a haemoglobinopathy to support a haematopoietic stem cell transplantation. PGD has an advantage over conventional pre-natal diagnosis as it precludes the need to consider terminating an affected ongoing pregnancy. However, PGD is a multi-step, complex and costly procedure with an unpredictable outcome and thus is most suited for couples with an unsuccessful reproductive history or challenging reproductive status. In addition, PGD supports the cure of an affected child. Couples who decide to undergo a PGD cycle should be fully aware of the advantages and limitations. The three teams of health practitioners involved (gynaecologists, embryologists and geneticists) should thoroughly counsel the couples and provide support at all the stages: the initial evaluation of their genetic and reproductive status, all steps of assisted reproduction, embryo biopsy, genetic analysis and, when relevant, follow-up of pregnancy and baby(ies) delivered.
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- Hydrops Fetalis Associated with Compound Heterozygosity for Hb Zurich-Albisrieden (HBA2: C.178G > C) and the Southeast Asian (- -(SEA)/) Deletion. [Case Reports]
- HHemoglobin 2016; 40(5):353-355
- Hb Zurich-Albisrieden [HBA2: c.178G > C; α59(E8)Gly→Arg (α2)] is a rare nondeletional α-thalassemia (α-thal) that results from a nucleotide substitution at codon 59 of the α2-globin gene. In this rep...
Hb Zurich-Albisrieden [HBA2: c.178G > C; α59(E8)Gly→Arg (α2)] is a rare nondeletional α-thalassemia (α-thal) that results from a nucleotide substitution at codon 59 of the α2-globin gene. In this report, we present a fetus with cardiomegaly, enlarged placenta and increased middle cerebral artery-peak systolic velocity (MCA-PSV) at 25 weeks' gestation. Fetal blood sampling revealed the severe anemia [hemoglobin (Hb) level being 5.5 g/dL] and Hb H (β4) disease-like hematological findings with Hb Bart's (γ4) level of 30.7%. Molecular analysis of the family found that the father was an Hb Zurich-Albisrieden carrier, the mother heterozygous for the - -(SEA) α(0)-thal deletion, and the fetus was a compound heterozygote for Hb Zurich-Albisrieden and the - -(SEA) α(0)-thal deletion. Therefore, this was a rare case of Hb Bart's hydrops fetalis associated with Hb Zurich Albisrieden.