Becoming a mother represents a pivotal life transition that introduces new roles and responsibilities for women. A deeper understanding of this concept can aid researchers and healthcare professionals in selecting appropriate measurement tools and designing nursing interventions that support a positive transition to motherhood, particularly for first-time mothers. This concept analysis aimed to explore and to clarify the defining attributes of maternal role transition in first pregnancy in order to establish an operational definition, and to identify its antecedents and consequences.

Guided by Walker and Avant's concept analysis model, this study also applied the Population, Concept, and Context (PCC) framework to determine eligibility criteria for the integrative review: studies on motherhood (population), transition (concept), and first-time pregnancy and childbirth (context). Electronic databases including CINAHL, MEDLINE, Scopus, and ProQuest were searched. Extracted data included definitions of maternal role transition, its key domains, the settings and populations of the included studies, and information relevant to the eight steps of concept analysis—namely, attributes, antecedents, and consequences.

From an initial 1,045 citations, 64 full-text articles were screened, and 30 studies met the inclusion criteria. Findings indicated that maternal role transition is both a process and an experience that facilitates a woman's journey toward embracing motherhood. Influential factors include preparation, perceived life changes, social support, trust, emotional comfort, couple relationships, and infant growth and development. A successful transition resulted in enhanced maternal skills, competence, confidence, acceptance of the maternal role, gratification, infant attachment, and overall maternal role adjustment.

BACKGROUND

Maternal malnutrition is a major cause of low birth weight (LBW) newborn outcome especially among adolescent mothers. It is one of the key drivers of child stunting and initiates the vicious cycle of intergenerational malnutrition. The body mass index prior to pregnancy or at the initial trimester is currently being used to establish the desired weight gain throughout pregnancy. However, Filipino adolescents often delay their first antenatal visit at a later stage of pregnancy. Without a baseline weight, the establishment of appropriate weight gain and nutritional status is often challenging. Mid-upper arm circumference (MUAC) was proven to be a good proxy measure of acute malnutrition, however, there was no global consensus on what MUAC cut-off point to use to identify pregnant adolescents at risk for delivering LBW babies. Finding the optimal cut-off could facilitate early identification and intervention of pregnant adolescents who are nutritionally at risk and could eventually break the cycle of intergenerational malnutrition.

The study aims to determine the association of maternal MUAC and the birth weight outcomes among newborn deliveries of adolescents in a tertiary hospital for a period of six months and to identify the optimal maternal MUAC cut-off point that can be used to predict low birth weight outcome among newborn deliveries of adolescents in a tertiary hospital.

A cross-sectional study was conducted among adolescents ages 10 to 19 years who delivered babies in a tertiary hospital in the Philippines for a period of six months. Maternal MUAC and LBW outcome were documented, and their association was determined using a logistic regression analysis. To measure diagnostic accuracy, the sensitivity, specificity, and the area under the curve were taken for each MUAC point. A receiver operating characteristic (ROC) curve was used to aid the MUAC cut-off determination.

Out of 237 newborn deliveries, 35% were noted with low birth weight while 65% had normal birth weight. Most of the mothers were in their late adolescence at 78%. The crude association for the MUAC cut-offs ≤23.00 cm, ≤23.50 cm, and ≤24.00 cm and LBW showed a significant value of 2.19, 2.25, and 2.39 at 95% CI, respectively. However, it is only the cut-off ≤24.00 cm that showed significant results for adjusted association by the logistic regression analysis. The MUAC cut-off ≤24.00 cm also showed a better trade-off value between the sensitivity and specificity. Furthermore, the optimal maternal MUAC measurement that predicts LBW newborn outcome points to ≤24.00 cm cut-off based on the ROC curve.

This study shows that the maternal MUAC is predictive of LBW outcome among adolescent deliveries.A MUAC cut-off of ≤24.00 cm was superior to lower cut-offs studied. The pregnant adolescents might need a higher MUAC cut-off than adults to allow timely intervention and prevention of poor neonatal outcomes. By doing this simple screening test, suspected pregnant adolescents can be easily identified and referred for further confirmatory testing.

Background: Child-rearing is challenging for adolescent mothers at risk of providing limited care to their children because of the challenges and demands of simultaneously being an adolescent and a mother. Children aged 0-2 years depend on caregivers like their young mothers to promote their physical, emotional, social, and cognitive growth and development. Objective: The study aimed to determine the effectiveness of the Child-rearing Information Booklet (CRIB) among adolescent mothers with children aged 0-2 years on the three dimensions of knowledge, attitude, and practices. Methods: The study utilized the quasi-experimental non-equivalent pre-test-post-test control group design to investigate 30 intervention and 30 comparison adolescent mothers with children aged 0-2 years who met the study criteria in Baguio City from January 2019 to January 2021. The fishbowl sampling technique was used in selecting the population and the specific barangays. A validated self-made questionnaire (I-CVI of 0.95 with Cronbach's α of 0.96) determined both groups' knowledge, attitude, and practices (KAP). The study used the weighted mean for adolescent mothers' KAP while an independent sample t-test analyzed the significant change in the scores of both groups and to answer the significant difference in the pre- and post-test scores between the two groups. Results: The results revealed that both groups are knowledgeable about child-rearing skills. Both groups have a favorable attitude when caring for their children and have a very satisfactory practice in childcare. The study also yielded a significant difference in the change of scores in the pre-and post-test scores of the two groups, specifically in knowledge and practice, while no significant difference in their attitude. It also presented a significant difference in the post-test scores between the two groups along with their knowledge (large effect size), attitude (medium effect size), and practices (large effect size). Conclusions Adolescent mothers have pre-existing KAP in child-rearing. The CRIB effectively enhances adolescent mothers' child-rearing knowledge and practice. Also, the increase of scores in KAP in child-rearing during the posttest may not be solely caused by the CRIB but also influenced by their age, level of education, living environment, experience in child-rearing, and age of their child. The CRIB has a high practical significance in improving the knowledge and practices among adolescent mothers but not in their attitude.
Adolescent Mothers ; Knowledge ; Attitude

BACKGROUND

Child-rearing is challenging for adolescent mothers at risk of providing limited care to their children because of the challenges and demands of simultaneously being an adolescent and a mother. Children aged 0-2 years depend on caregivers like their young mothers to promote their physical, emotional, social, and cognitive growth and development.

The study aimed to determine the effectiveness of the Child-rearing Information Booklet (CRIB) among adolescent mothers with children aged 0-2 years on the three dimensions of knowledge, attitude, and practices.

The study utilized the quasi-experimental non-equivalent pre-test-post-test control group design to investigate 30 intervention and 30 comparison adolescent mothers with children aged 0-2 years who met the study criteria in Baguio City from January 2019 to January 2021. The fishbowl sampling technique was used in selecting the population and the specific barangays. A validated self-made questionnaire (I-CVI of 0.95 with Cronbach's α of 0.96) determined both groups' knowledge, attitude, and practices (KAP). The study used the weighted mean for adolescent mothers' KAP while an independent sample t-test analyzed the significant change in the scores of both groups and to answer the significant difference in the pre- and post-test scores between the two groups.

The results revealed that both groups are knowledgeable about child-rearing skills. Both groups have a favorable attitude when caring for their children and have a very satisfactory practice in childcare. The study also yielded a significant difference in the change of scores in the pre-and post-test scores of the two groups, specifically in knowledge and practice, while no significant difference in their attitude. It also presented a significant difference in the post-test scores between the two groups along with their knowledge (large effect size), attitude (medium effect size), and practices (large effect size).

Adolescent mothers have pre-existing KAP in child-rearing. The CRIB effectively enhances adolescent mothers' child-rearing knowledge and practice. Also, the increase of scores in KAP in child-rearing during the posttest may not be solely caused by the CRIB but also influenced by their age, level of education, living environment, experience in child-rearing, and age of their child. The CRIB has a high practical significance in improving the knowledge and practices among adolescent mothers but not in their attitude.

OBJECTIVE: To explore the genetic basis for a patient with early-onset retinitis pigmentosa (RP). METHODS: A patient who had presented at the West China Hospital of Sichuan University on March 10, 2020 was selected as the study subject. The patient and his parents were subjected to whole exome sequencing (WES). Candidate variants were verified by Sanger sequencing and in silico analysis. RESULTS: The patient has featured substantial loss of binocular vision field. Funduscopy revealed characteristic bone spicule-type pigment deposits, as well as attenuated retinal arterioles and pale-appearing optic discs. WES revealed that he has harbored compound missense variants of a RP-associated CRB1 gene, including c.2969T>C (p.Leu990Ser) and c.1816T>C (p.Cys606Arg), which were respectively inherited from his father and mother. Homozygous c.1816T>C (p.Cys606Arg) variant has been identified among RP patients, whilst the c.2969T>C (p.Leu990Ser) variant was unreported previously. Both variants were predicted as likely pathogenic based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). CONCLUSION The novel compound heterozygous variants of the CRB1 gene probably underlay the early-onset RP in this patient. Above finding has enriched the mutational spectrum of the CRB1 gene.
Male ; Female ; Humans ; China ; Genomics ; Homozygote ; Mothers ; Retinitis Pigmentosa/genetics* ; Eye Proteins/genetics* ; Membrane Proteins/genetics* ; Nerve Tissue Proteins/genetics*

OBJECTIVE: To explore the genetic basis for a fetus with limb abnormality and cardiac malformation. METHODS: Clinical data of a fetus diagnosed at the Shandong Provincial Maternal and Child Health Care Hospital on April 30th, 2021 was collected. Whole exome sequencing (WES) was carried out, and candidate variant was verified by Sanger sequencing and bioinformatic analysis. X-inactivation analysis was carried out for the female members of its family. RESULTS: The fetus was found to have meningoencephalocele, absence of bilateral radii, cleft lip, abnormal great arteries, and single umbilical artery at the gestational age of 11+ weeks. Sequencing revealed that the fetus has harbored a hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene, which was maternally inherited. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and ClinGen, the variant was classified as pathogenic (PVS1+PM2_Supporting+PP4). X-inactivation analysis has revealed complete skewed X-inactivation in the pregnant woman and her mother. CONCLUSION The hemizygous c.1162del (p.Y388Tfs*7) variant of the FANCB gene probably underlay the multiple malformations in this fetus.
Female ; Humans ; Pregnancy ; Abnormalities, Multiple ; Cleft Lip ; Fanconi Anemia Complementation Group Proteins ; Fetus ; Gestational Age ; Mothers

OBJECTIVE: To investigate the clinical features and genetic variant of a child with X-linked dominant Alport syndrome (XLAS). METHODS: A child who had presented at the First Affiliated Hospital of Zhengzhou University in May 2019 was selected as the study subject. Clinical data of the child was collected. Next generation sequencing (NGS) was carried out for the child. Candidate variants were validated by Sanger sequencing of his family members. RESULTS: The child, a 12-year-old boy, had mainly manifested gross hematuria, proteinuria, nephrotic syndrome, and progressive renal impairment in conjunct with hearing loss. Kidney biopsy has revealed uneven glomerular basement membrane thickness. DNA sequencing revealed that the child and his mother have both carried a heterozygous c.2632G>A (p.G878R) variant of the COL4A5 gene, for which his father and brother were of the wild type. This variant was unreported previously. Based on the guidelines from the American College of Medical Genetics and Genomics, the variant was classified as pathogenic (PS1+PM1+PM2_Supporting+PP3). CONCLUSION The maternally derived hemizygous c.2632G>A (p.G878R) variant of the COL4A5 gene probably underlay the XLAS in this child. Above finding has enriched the mutational spectrum of the COL4A5 gene.
Male ; Female ; Humans ; Child ; Nephritis, Hereditary/genetics* ; Deafness ; Kidney Glomerulus ; Genomics ; Mothers

OBJECTIVE: To explore the coagulation deficit and genetic basis for a Chinese pedigree affected with Congenital dysfibrinogenemia (CD). METHODS: Peripheral venous blood samples of the proband and her family members (including 4 individuals from three generations) were subjected to routine blood test and assays of liver and kidney functions and viral hepatitis to exclude related diseases. Clauss method and DFg-PT method were used to determine the fibrinogen activity (Fg:C), and an immunoturbidimetric assay was used to determine the level of fibrinogen antigen (Fg:Ag). All of the exons (22 in total) and their flanking sequences of the FGA, FGB and FGG genes were amplified by PCR and directly sequenced. Variants in the coding regions of the three genes and transcriptional splicing sites were screened by using Mutation Surveyor^TM software. RESULTS: The Clauss method showed that Fg:C was significantly reduced in the proband and her father, whilst her mother and son were normal. With the DFg-PT method, the proband, her parents and son were all within the normal range. The Fg:C/Fg:Ag ratio of the proband and her father was lower than 0.7, whilst her mother and son were above 0.7. No significant change in the prothrombin time, activated partial thromboplastin clotting time and thrombin time was noted. Two genetic variants were detected, which included a homozygous missense variant in the FGA gene [c.991A>G (p.Thr331Ala)], which was predicted to be benign, and a heterozygous missense variant of the γ chain of the FGG gene [c.1211C>G (p.Ser404Phe)], which is located in a conserved region and unreported in the CLINVAR/HGMD/EXAC/1000G databases and literature. CONCLUSION This pedigree has conformed to the autosomal dominant inheritance of CD. The c.1211C>T (p.Ser404Phe) missense variant of the γ chain of the FGG gene probably underlay the pathogenesis of CD in this pedigree. The variant was unreported previously and named as "Fibrinogen Harbin II Ser404Phe".
Female ; Humans ; Afibrinogenemia/congenital* ; East Asian People ; Fibrinogen/genetics* ; Mothers ; Mutation ; Pedigree

OBJECTIVE: To explore the genetic basis for a Chinese pedigree featuring congenital profound syndromic deafness and chronic constipation, and provide prenatal diagnosis for a high-risk fetus. METHODS: Whole-exome sequencing was carried out to analyze the sequences of genes associated with hereditary deafness, and multiplex ligation-dependent probe amplification (MLPA) was used to verify the candidate variant in the proband's parents and the fetus. RESULTS: The proband was found to have harbored a heterozygous deletion of SOX10, a pathogenic gene associated with Waardenburg syndrome type 4C (WS4C). The same deletion was found in her mother (with profound syndromic deafness and chronic constipation) and the fetus, but not in her father with normal hearing. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG) and Association for Molecular Pathology (AMP), the SOX10 gene deletion was predicted to be a pathogenic variant (PVS1+PM2_Supporting+PP1+PP4). CONCLUSION The pedigree was diagnosed with WS4C, which has conformed to an autosomal dominant inheritance. Deletion of the entire SOX10 gene, as a loss-of-function variant, probably underlay its pathogenesis. Above finding has facilitated genetic counseling and prenatal diagnosis for this family.
Humans ; Female ; Pregnancy ; Pedigree ; Waardenburg Syndrome/genetics* ; East Asian People ; Genetic Testing ; Prenatal Diagnosis ; Hearing Loss, Sensorineural/genetics* ; Deafness/genetics* ; Mothers ; Constipation/genetics* ; Mutation ; SOXE Transcription Factors/genetics*

OBJECTIVE: To analyze variants of SMN gene in a Chinese pedigree affected with Spinal muscular atrophy (SMA). METHODS: A Chinese pedigree diagnosed at the Nanchang First Hospital in January 2020 was selected as the study subject. Peripheral blood samples were collected for the extraction of DNA. All exons of the SMN gene were detected by multiple ligation-dependent probe amplification (MLPA). Potential variants of the SMN gene were also detected by Whole exome sequencing (WES), and the result was verified by Sanger sequencing. cDNA extracted from fresh blood sample was used as a template to verify the location of variant on the SMN genes. RESULTS: The proband was found to harbor a heterozygous deletion of the SMN1 Exon7+Exon8, and a heterozygous c.81G>A variant. The SMN1 Exon7+Exon8 deletion was inherited from her father and grandmother, whilst the c.81G>A variant was inherited from her mother and maternal grandfather. Her aunt was also a carrier of the heterozygous deletion, while her paternal aunt, her husband, and their daughter were not. cDNA amplification and Sanger sequencing confirmed that the c.81G>A variant was located in the SMN1 gene. CONCLUSION MLPA combined with NGS and Sanger sequencing can identify compound heterozygous variants of the SMN gene in the SMA patients.
Female ; Humans ; Male ; DNA, Complementary ; East Asian People ; Fathers ; Mothers ; Muscular Atrophy, Spinal/diagnosis* ; Pedigree ; Survival of Motor Neuron 1 Protein/genetics*