ABSTRACT
Introducción: Las hemoglobinopatías se consideran errores monogénicos hereditarios y están caracterizados por defectos en la molécula de hemoglobina. En Cuba, la detección prenatal de hemoglobinopatías se realiza a través de la electroforesis de hemoglobina para identificar parejas de alto riesgo. El programa brinda: asesoramiento genético, diagnóstico prenatal molecular e interrupciones selectivas de fetos afectados, a solicitud de las parejas. Objetivo: Determinar la frecuencia de hemoglobinopatías en mujeres embarazadas residentes en Cuba. Métodos: Se realizó un estudio descriptivo, retrospectivo y de corte transversal para determinar la frecuencia de hemoglobinopatías en 1 342 917 mujeres embarazadas captadas en el periodo 2009-2019. El método diagnóstico de la pesquisa fue la electroforesis de hemoglobina en geles de agarosa a pH alcalino. La confirmación se realizó por electroforesis de hemoglobina en gel de agarosa a pH ácido; ambos métodos mediante la tecnología HYDRASYS. Resultados: La frecuencia global de embarazadas con hemoglobinopatías fue de 3,5 por ciento. Se detectó hemoglobinopatías en 47 465 mujeres; 38 698 con variante S heterocigoto, 8 706 variantes de hemoglobina C y 158 de otras variantes. Se detectaron 44 283 esposos con hemoglobinopatías, 3 099 parejas de alto riesgo y se realizaron 2 689 diagnósticos prenatales moleculares. Se confirmaron 522 fetos afectados y 382 parejas solicitaron la interrupción del embarazo. El subprograma alcanzó 99,24 por ciento de cobertura en el país. Conclusión: La alta frecuencia de hemoglobinopatías en Cuba justifica la importancia de continuar el subprograma de detección de portadores para prevenir la aparición de las formas graves de la enfermedad(AU)
Introduction: Hemoglobinopathies are hereditary monogenic errors characterized by defects in the hemoglobin molecule. In Cuba, prenatal detection of hemoglobinopathies is performed by hemoglobin electrophoresis to identify high-risk couples. The program offers genetic counseling, prenatal molecular diagnosis and selective pregnancy termination in case of affected fetuses at the request of couples. Objective: Determine the frequency of hemoglobinopathies among pregnant women living in Cuba. Methods: A descriptive cross-sectional retrospective study was conducted to determine the frequency of hemoglobinopathies in 1 342 917 pregnant women recruited in the period 2009-2019. Screening was based on the diagnostic method of hemoglobin electrophoresis in alkaline pH agarose gels. Confirmation was performed with hemoglobin electrophoresis in acid pH agarose gel. Both methods used HYDRASYS technology. Results: Overall frequency of pregnant women with hemoglobinopathies was 3.5 percent. Hemoglobinopathies were detected in 47 465 women: 38 698 with variant S heterozygote, 8 706 with variants of hemoglobin C y 158 with other variants. 44 283 husbands with hemoglobinopathies and 3 099 high-risk couples were detected, and 2 689 prenatal molecular diagnostic tests were conducted. A total 522 affected fetuses were confirmed, and 382 couples requested pregnancy termination. The subprogram achieved 99.24 percent coverage in the country. Conclusion: The high frequency of hemoglobinopathies in Cuba justifies the importance of continuing the carrier detection subprogram to prevent the emergence of severe forms of the disease(AU)
Subject(s)
Humans , Female , Pregnancy , Prenatal Diagnosis , Family Characteristics , Electrophoresis , Genetic Counseling , Hemoglobinopathies , Hydrogen-Ion Concentration , Mass Screening , Retrospective Studies , CubaABSTRACT
OBJECTIVE: Noninvasive prenatal detection of trisomy 21 (T21) has been achieved by measuring the ratio of two alleles of a single nucleotide polymorphism in circulating placenta specific 4 (PLAC4) mRNA in maternal plasma with a few assays in recent years. Our research is to explore the variations of PLAC4 mRNA expression level in maternal plasma with normal pregnancies in second trimester, which can provide pregnant women deeper insights with suitable detection period for the non-invasive prenatal detection of T21. METHODS: We measured a serial plasma PLAC4 mRNA concentrations weekly from the same 25 singleton normal pregnant women. We recruited maternal plasma samples from 45 singleton pregnant women, comprising of 25 euploid pregnancies (control group; range, 17 to 21 weeks) and 20 T21 pregnancies (T21 group; range, 19 to 24 weeks). With the application of reverse transcription polymerase chain reaction, we achieved an insight of PLAC4 mRNA expression levels in maternal plasma during second trimester with euploid pregnancies. RESULTS: Among the control group, the levels of PLAC4 mRNA expression in the gestation of 17 to 18 weeks were significantly less than those in the gestation of 18 to 21 weeks (P0.05). CONCLUSION: The PLAC4 mRNA showed a higher level of expression in the gestation of 18 to 21 weeks with an euploid pregnancy of pregnant women. We also found that there was no significant difference in plasma PLAC4 mRNA concentration between the normal and the T21 pregnancies in second trimester.
Subject(s)
Female , Humans , Pregnancy , Alleles , Down Syndrome , Placenta , Plasma , Polymerase Chain Reaction , Polymorphism, Single Nucleotide , Pregnancy Trimester, Second , Pregnant Women , Reverse Transcription , RNA, MessengerABSTRACT
Introducción: el acretismo y percretismo se asocian con antecedentes de placentas previas y cesáreas anteriores, las cuales se han incrementado en nuestro medio. Por este motivo, su detección anteparto es fundamental en el propósito de disminuir el riesgo de morbimortalidad materna. Objetivo: evaluar la utilidad del ultrasonido (US) y la resonancia magnética (RM) en el diagnóstico prenatal de este trastorno adherencial placentario. Metodología: el presente es un estudio de cohorte prospectivo que incluyó a once mujeres en tercer trimestre de embarazo con antecedentes de placenta previa y cesárea anterior, a las cuales se les practicó US transabdominal y transvaginal, Doppler color y resonancia magnética, buscando signos de acretismo, los cuales fueron comparados con los hallazgos durante el parto y la histopatología. Resultados: el ultrasonido mostró una sensibilidad de 70% (IC95% 35,4-91,9). En contraste, el Doppler color y la resonancia magnética evidenciaron una sensibilidad de 90% (IC 95% 54,1-99,5). Conclusión: en pacientes con placenta previa y cesárea anterior, el US y el Doppler color surgen como una herramienta útil en la detección de acretismo placentario; sin embargo, se requieren mayores estudios para confirmar su validez diagnóstica.
Introduction: An increased risk of placenta accreta and placenta percreta is associated with patients having had previous caesarean deliveries or placenta previa; such conditions have been increasing of late. Prenatal detection may be helpful in reducing maternal morbidity and mortality. Objective: evaluating the usefulness of ultrasound (US) and magnetic resonance (MR) for prenatal detection of abnormal placental separation. Methodology: this was a prospective study which included 11 patients in the third trimester of pregnancy having a history of previou scaesarean and placenta previa. Transabdominal and transvaginal US, colour Doppler and MR were thus performed, seeking signs of placenta accreta; these were compared to histopathological findings and data from when birth was given. Results: US and MR had 70% sensitivity (95% CI 35.4-91.9) whilst colour Doppler had 90% sensitivity (95%CI 54.1-99.5). Conclusions: US and colour Doppler US might be useful, highly sensitive techniques for detecting abnormal adherence of the placenta in patients having a history of placenta previa and previous caesarean deliveries. Further studies are required for confirming their diagnostic validity.
Subject(s)
Humans , Adult , Female , Pregnancy , Placenta Accreta , Prenatal Diagnosis , UltrasonicsABSTRACT
OBJECTIVE: Our aim was to evaluate the accuracy of prenatal sonographic detection of fetal gastrointestinal(GI) anomalies and to present perinatal outcome of fetal GI anomalies, incidence of polyhydramnios, other malformations and chromosomal abnormalities associated with fetal GI anomalies. MATERIALS AND METHODS: Prenatal sonographic results were compared with GI anomalies found in 32 neonates during recent 8 years. 32 cases of fetal GI anomalies were divided into three groups based on the level of obstruction and complication; group 1: upper GI obstruction(4 esophageal, 5 duodenal and 8 ileojejunal atresia); group 2: lower GI obstruction(1 colonal, 9 anorectal atresia); group 3: GI obstruction with secondary complication(1 ascites, 2 meconium peritonitis, 2 meconium pseudocyst). RESULTS: The accurate prenatal sonographic detection rate of fetal GI anomalies was 70.6% in group 1 and 100% in group 3 and there was no detection in group 2. False positive diagnosis was made in 5 cases(2: esophageal atresia, 3:ileojejunal atresia), but none of them except one case of multiple cardiac anomalies confirmed by autopsy, was followed by termination of pregnancy. Polyhydramnios was significantly associated with group 1 and associated malformations with group 2. An abnormal karyotype existed in three out of 32(1 case of trisomy 18 in esophageal atresia, 2 cases of trisomy 21, each one in duodenal and anorectal atresia). Survival rate of group 1, 2, 3 were 76%, 25%, and 40% respectively. CONCLUSIONS: The upper GI anomalies were easily detected by prenatal sonographic examination and had a good prognosis. But, the lower GI anomalies were difficult to diagnose prenatally and had a poor prognosis. Therefore, further efforts to diagnose for lower GI anomalies should be performed.
Subject(s)
Humans , Infant, Newborn , Pregnancy , Abnormal Karyotype , Ascites , Autopsy , Chromosome Aberrations , Colon , Diagnosis , Down Syndrome , Esophageal Atresia , Incidence , Meconium , Peritonitis , Polyhydramnios , Prognosis , Survival Rate , Trisomy , UltrasonographyABSTRACT
PURPOSE: Prenatal sonography resulted in increased recognition of renal duplication anomalies and, therefore, earlier urological referral and evaluation. However, surgical approach in very young children is debating. We attempt to investigate clinical features and to propose the management strategies in patients with prenatally detected ureteroceles. MATERIALS AND METHODS: From 1982 to 1997, there has been 35 patients (47 units) of duplex system ureter in which both preoperative and postoperative imaging studies including DMSA renal scan were available. Among these, detailed diagnosis and treatment of prenatally detected (PreD) ureteroceles associated with duplex system (9 patients or 12 ureteroceles) were assessed compared with post-natally detected (PND) ones (26 patients or 35 ureteroceles). RESULTS: There were 2 males and 7 female patients in PreD group, whose ureteroceles presented as 6 unilateral (right 1, left 5) and 3 bilateral units. There were 3 patients (33%) presented with urinary tract infection in PreD group and 24 patients (92%) in PND group. Functional evaluation by DMSA renal scan revealed that 8 units (67%) were functioning in PreD group while 37% in PND group, which was not significantly different between two groups. Initial treatment in PreD group were performed in 11 units; transurethral ureterocele incision (TUI, 8 units), ureteroureterostomy (UUO, 1) and upper pole nephrectomy (UPNx, 2). Additional surgery was performed in 8 units, all of which were initially performed TUI. When initial functional status of the upper pole (UP) determined by renal scan were analyzed by ultimate mode of treatment, initially nonfunctioning parenchyme resulted in UPNx in 4 units and 8 functioning moiety were led to parenchyme-sparing surgery, implying TUI actually had not modified ultimate clinical course. Taken both PreD and PND together, UUO and ureteral reimplantation showed lower secondary operation rate. CONCLUSIONS: Although statistics did not fully support our clinical impression, patients with PreD ureterocele have higher proportion in preserving UP function compared with that of a PND. Our results shows direct approach to the upper pole according to the functional status is preferred.