RESUMEN
Germline genome editing of IVF embryos is controversial because it is not directly health or lifesaving but is intended to prevent genetic diseases in yet-unborn future offspring. The following criteria are thus proposed for future clinical trials: (i) Due to medical risks, there should be cautious and judicious application while avoiding any non-essential usage, with rigorous patient counseling. (ii) Genome editing should only be performed on the entire batch of IVF embryos without initial PGT screening if all of them are expected to be affected by genetic disease. (iii) When there is a fair chance that some IVF embryos will not be affected by genetic diseases, initial PGT screening must be performed to identify unaffected embryos for transfer. (iv) IVF embryos with carrier status should not undergo germline genome editing. (v) If patients fail to conceive after the transfer of unaffected embryos, they should undergo another fresh IVF cycle rather than opt for genome editing of their remaining affected embryos. (vi) Only if the patient is unable to produce any more unaffected embryos in a fresh IVF cycle due to advanced maternal age or diminished ovarian reserves, can the genome editing of remaining affected embryos be permitted as a last resort.
Asunto(s)
Fertilización In Vitro , Edición Génica , Células Germinativas , Diagnóstico Preimplantación , Femenino , Humanos , Embarazo , Transferencia de Embrión/métodos , Embrión de Mamíferos , Fertilización In Vitro/métodos , Fertilización In Vitro/normas , Edición Génica/métodos , Edición Génica/normas , Diagnóstico Preimplantación/métodosRESUMEN
The majority of women who freeze their eggs for non-medical or social reasons, commonly referred to as elective egg freezing (EEF), do not eventually utilize their frozen eggs. This would result in an accumulated surplus of unused frozen eggs in fertility clinics worldwide, which represents a promising source of donation to infertile women undergoing IVF treatment. Rigorous and comprehensive counseling is needed, because the process of donating one's unused surplus frozen eggs involves complex decision-making. Prospective EEF donors can be broadly categorized into those who have achieved motherhood and those who remained childless and have given up on motherhood aspirations. A two-step systematic counseling protocol is proposed. Firstly, it is imperative to verify and ensure that these women do not want to conceive any children with their surplus frozen eggs before proceeding with further counseling and signing of consent forms. Secondly, various motivating and dissuading factors in the donation of unused surplus frozen eggs should then be comprehensively discussed with egg freezers to facilitate informed decision-making. Key motivating factors for donation include reciprocity in wanting to share the joys of motherhood among egg freezers who already have children, goodwill to help others in need, and avoiding the wastage of surplus frozen eggs after expending so much money, time, and effort. Key dissuading factors include fear of accidental incest between natural and unknown donor-conceived offspring, as well as apprehension of unexpected future contact with unknown donor-conceived offspring due to either donor anonymity being abolished in their jurisdiction or widespread consumer DNA testing.
Asunto(s)
Infertilidad , Medicina Reproductiva , Humanos , Medicina Reproductiva/normas , Infertilidad/terapia , Infertilidad/diagnóstico , Infertilidad/fisiopatología , Femenino , Estados Unidos/epidemiología , Sociedades Médicas/normas , Masculino , Religión y Medicina , Características Culturales , Terminología como AsuntoRESUMEN
Management of chronic hepatitis B infection complicated by hepatocellular carcinoma (HCC) in pregnancy poses a treatment dilemma as the pregnancy accelerates disease progression and narrows the diagnostic tools and therapeutic choices. Studies have reported higher maternal and fetal losses. We share our experience with a 36-year-old pregnant woman who presented at 35 weeks' gestation with a large painful nodular liver and significant weight loss. She tested HBsAg-positive and had both clinical and laboratory features of severe liver decompensation. The abdominal ultrasound rightly described HCC on a cirrhotic background. The fetus was delivered by cesarean section but the mother died soon after.
Asunto(s)
Carcinoma Hepatocelular , Hepatitis B , Neoplasias Hepáticas , Adulto , Carcinoma Hepatocelular/diagnóstico , Carcinoma Hepatocelular/terapia , Carcinoma Hepatocelular/virología , Cesárea , Resultado Fatal , Femenino , Hepatitis B/complicaciones , Hepatitis B/diagnóstico , Hepatitis B/terapia , Hepatitis B/transmisión , Humanos , Recién Nacido , Fallo Hepático/diagnóstico , Fallo Hepático/etiología , Fallo Hepático/terapia , Neoplasias Hepáticas/diagnóstico , Neoplasias Hepáticas/terapia , Neoplasias Hepáticas/virología , Muerte Materna , Embarazo , Complicaciones Infecciosas del Embarazo/diagnóstico , Complicaciones Infecciosas del Embarazo/terapia , Complicaciones Neoplásicas del Embarazo/diagnóstico , Complicaciones Neoplásicas del Embarazo/terapia , Complicaciones Neoplásicas del Embarazo/virología , PronósticoRESUMEN
Background: Gestational malaria is a major public health problem. It produces fetal complications such as low birth weight, perinatal mortality, and congenital malaria. The present study is aimed at determining the prevalence of congenital malaria and its neonatal complications in the city of Kisangani. Methods: We conducted a cross-sectional study in Kisangani from 1 January to 30 September 2018. Our study population was composed of 1248 newborns born in our study sites, during the period of our study. Just after their birth, we performed the thick drop smear in the placental print and in umbilical blood smear. Results: The prevalence of congenital malaria was 13.98%; 69.23% of newborns who contracted congenital malaria were from 18- to 34-year-old mothers, 53.85% from primiparous mothers, 92.31% from mothers who took intermittent preventive treatment in pregnancy with Sulfadoxine-Pyrimethamine, all (100%) from mothers using the insecticide-treated mosquito nets and 7.69% from HIV-positive mothers. Low birth weight and perinatal mortality were recorded in 76.92% and 7.69% of congenital malaria cases, respectively. Intermittent preventive treatment in pregnancy with Sulfadoxine-Pyrimethamine had no effect on congenital malaria (FE = 0.5218; OR: 0.8, 95% CI: 0.1651-3.8769) and on low birth weight (FE = 0.3675; OR: 1.2308, 95% CI: 0.0037-0.1464); however, it seemed to have protective effect against perinatal mortality (FE = 0.0001; OR: 0.0233, 95% CI: 0.0037-0.1464). Conclusion: Congenital malaria remains a major problem in stable malaria transmission area like Kisangani, and it is grafted by major perinatal complications, particularly low birth weight and perinatal mortality. We recommend an extended study to clarify the relationship between the outcome of pregnancy and the intermittent preventive treatment in pregnancy with Sulfadoxine-Pyrimethamine.
Asunto(s)
Malaria/congénito , Malaria/epidemiología , Complicaciones Parasitarias del Embarazo/epidemiología , Adolescente , Adulto , Antimaláricos/uso terapéutico , Estudios Transversales , República Democrática del Congo/epidemiología , Combinación de Medicamentos , Femenino , Humanos , Recién Nacido de Bajo Peso , Recién Nacido , Embarazo , Atención Prenatal , Prevalencia , Pirimetamina/uso terapéutico , Sulfadoxina/uso terapéutico , Adulto JovenRESUMEN
INTRODUCTION: the implementation of neonatal screening to identify infants with sickle cell disease during the COVID-19 pandemic is a major challenge in the Democratic Republic of the Congo (DRC). The purpose of this study is to determine whether socio-economic factors are associated with acceptability of newborn screening to identify infants with sickle cell disease during the COVID-19 pandemic in Kisangani, DRC. METHODS: we conducted an observational study of mothers sensitized to neonatal screening to detect sickle cell disease in their newborns with hemotypeSCTM (HT401RUO-USA). The study was carried out at the maternity wards in Kisangani from March 21st to June 30th 2020. Collected data were parity, educational level, age, socio-economic level, occupation, awareness and the reason for the denial of screening. RESULTS: out of 55.5% (273/492) of sensitized mothers, 107 (39.19%) accepted and 166 (60.80%) refused neonatal screening to detect sickle cell disease in their newborn. The reasons for refusal were lack of information (67.5%; 95% CI [59.8-74.5]), lack of money due to confinement (66.3%; 95% CI [58.5-73.4]), blood test to develop a vaccine for protection against COVID-19 (63.2%; 95% CI = [55.4-70.6]). Factors associated with the acceptability of screening were age > 35 years (p = 0.0009; ORa = 3.04; 95% CI = 1.57-5.87) and low socio-economic level (p = 0.0016; ORa = 2.29; 95% CI = 1.37-3.85). CONCLUSION: the acceptability of neonatal screening to detect sickle cell disease during COVID-19 is low in Kisangani. The government should identify effective communication channels to promote health care initiatives.
Asunto(s)
Anemia de Células Falciformes/diagnóstico , COVID-19 , Tamizaje Neonatal/métodos , Aceptación de la Atención de Salud/estadística & datos numéricos , Adolescente , Adulto , Factores de Edad , Comunicación , República Democrática del Congo , Femenino , Humanos , Recién Nacido , Madres/estadística & datos numéricos , Factores Socioeconómicos , Negativa del Paciente al Tratamiento/estadística & datos numéricos , Adulto JovenRESUMEN
We report a case of acute thoracic syndrome diagnosed in a Congolese pregnant woman in whom sickle-cell trait was detected after admission to hospital for fever and respiratory symptoms. Paraclinical examinations performed to detect the cause of the disease were unhelpful. Chest X-ray showed infiltrates at the base of the lungs. Sickle SCAN test kit confirmed by liquid chromatography associated with mass spectrometry showed that the patient had sickle cell trait Symptoms were quite refractory to treatment. A favorable outcome was observed after expulsion of the fetus. Clinicians should suspect acute thoracic syndrome in pregnant women with sickle-cell trait because outcome can be favorable in the postpartum period.