In the first trimester of pregnancy, amniotic fluid is produced from maternal plasma where there is a rapid bi-directional diffusion across the foetal skin. At 10 weeks the volume is about 25ml. By 16th weeks of gestation the foetal kidneys make urine that contributes to the increasing volume of amniotic fluid, along with nasal secretions. At 20 weeks, the level is 400ml and increases to 800ml at 28weeks, after which it reduces to 600ml at term.

Alpha-fetoprotein has significance primarily as a tumour marker, but maternal levels are frequently measured to detect some of the congenital abnormalities, in which the levels of alpha-fetoprotein are either increased or decreased. The conditions associated with raised alpha-fetoprotein levels are: spina bifida, anencephaly, myelomeningocele, oesophageal atresia, congenital nephrotic syndrome, and turner’s syndrome. Down’s syndrome or trisomy 21 is associated with low levels of maternal alpha-fetoprotein.

Usually, a total serum bilirubin level test is the only one required in an infant with moderate jaundice who presents on the second or third day of life without a history and physical findings suggestive of a pathologic process. Measurement of bilirubin fractions (conjugated vs unconjugated) in serum is not usually required in infants who present as described above. However, in infants who have hepatosplenomegaly, petechiae, thrombocytopenia, or other findings suggestive of hepatobiliary disease, metabolic disorder, or congenital infection, early measurement of bilirubin fractions is suggested. The same may apply to infants who remain jaundiced beyond the first 7-10 days of life, and to infants whose total serum bilirubin levels repeatedly rebound following treatment.

The baby most likely has umbilical granuloma – granulation tissue may persist at the base of the umbilicus after cord separation| the tissue is composed of fibroblasts and capillaries and can grow to more than 1 cm.Medical therapy is indicated only when an infection is present.Silver nitrate application to umbilical granulomas is usually successful. One or more applications may be needed. Care must be taken to avoid contact with the skin. Silver nitrate can cause painful burns. Small umbilical granulomas with a narrow base may be safely excised in the office setting. Large granulomas and those growing in response to an umbilical fistula or sinus do not resolve with silver nitrate and must be surgically excised in the operating room setting.

Transient tachypnoea of the new-born (TTN) is the commonest cause of respiratory distress in new-borns and self-limiting. It can affect any new-born shortly after birth. Its most prominent feature is tachypnoea. Nasal flaring, grunting, or intercostal retractions may also be present.

Developmental dysplasia (DDH) of the hip refers to patients who are born with a dislocated or unstable hip due to abnormal development of the hip. Female infants and first born infants are most likely to present with DDH. Other risk factors for DDH include, breech positioning, oligohydramnios, high birth weight or post date babies.

Umbilical vein catheterization utilizes the exposed umbilical stump in a neonate as a site for emergency central venous access up to 14 days old. Umbilical vein catheterization can provide a safe and effective route for intravenous delivery of medications and fluids during resuscitation.The indication for umbilical vein catheterization is when there is a need for IV access in a neonate for resuscitation, transfusions, or short-term venous access when otherwise unobtainable.

Sepsis can be described as a condition in which there is a dysregulated inflammatory response to an infection. In the case of neonates, sepsis can be life threatening and may present with respiratory distress more than 4 hours after birth, shock, seizures, and multi organ failure. Risk factors that further point to sepsis include prolonged rupture of maternal membranes for more than 24 hours before birth, a history of a maternal fever during labour, or parenteral antibiotic treatment given to the mother for a suspected or confirmed bacterial infection.

Noonan syndrome is one of the most common genetic diseases associated with congenital heart defects, being second in frequency only to Down syndrome.Pulmonary stenosis and hypertrophic cardiomyopathy are generally the most common congenital heart defects found in Noonan syndrome.Pulmonary stenosis is often associated with a thickened and dysplastic valve. It is usually difficult to obtain a satisfactory result using the transcatheter balloon dilatation of such dysplastic valves, so surgical intervention is more likely to be needed.Hypertrophic cardiomyopathy involves predominantly the ventricular septum as asymmetric septal hypertrophy, but may also affect the ventricular free walls. Left ventricular outflow tract obstruction may occasionally be produced.

EPICure is a series of studies of survival and later health among babies and young people who were born at extremely low gestations – from 22 to 26 weeks.Boost II is a double-blind randomised controlled trial (RCT) comparing the effects of targeting arterial oxygen saturations between 85% and 89% versus 91% and 95% in preterm infants.OSCAR Xe is not the name of a study. Baby-OSCAR is an RCT to determine whether a confirmed large patent ductus arteriosus in very premature babies should be treated with ibuprofen within 72 hours of birth.SafeBoosC is a trial to examine if it is possible to stabilise the cerebral oxygenation of extremely preterm infants in the first 72 hours of life with the use of NIRS oximetry and a clinical treatment guideline. TOBY Xe is an RCT looking at the neuroprotective effects of hypothermia combined with inhaled xenon following perinatal asphyxia.

Mongolian spots are, hyper-pigmented, non-blanching patches present on the back and gluteal region at birth. They are commonly found in African and Asian ethnic groups, and can also present in infants of Mediterranean and middle eastern descent. Though the spots usually disappear by puberty, some may persist into adulthood.

Germinal matrix/intraventricular haemorrhage (GM/IVH) is a complication of premature delivery that can result in life-long medical and developmental consequences.Loss of autoregulation of cerebral blood flow is a pathophysiologic feature of germinal matrix/intraventricular haemorrhage (GM/IVH). Prematurity itself results in derangements in cerebral autoregulation. In some patients, a history of additional events that result in loss of autoregulation can be obtained. Furthermore, events that can result in beat-to-beat variability of cerebral blood flow may be identified in some patients.There may be no symptoms. The most common symptoms seen in premature infants include:- Breathing pauses (apnoea)- Changes in blood pressure and heart rate- Decreased muscle tone- Decreased reflexes- Excessive sleep- Lethargy- Weak suck- Seizures and other abnormal movements

Macrosomia can be defined as either a birth weight greater than 4kg or birth weight greater than 90% for the gestational age. Risk factors for macrosomia include maternal diabetes, excessive gestational weight gain, pre-pregnancy obesity, male gender, ethnicity, and advanced gestational age. Genetic conditions associated with macrosomia are Bardet-Biedl syndrome, Perlman syndrome, Beckwith-Wiedemann syndrome, and Prader-Willi syndrome. Silver-Russell syndrome is associated with intrauterine growth retardation and post-natal failure to thrive.

The ductus arteriosus is normally patent during fetal life| it is an important structure in fetal development as it contributes to the flow of blood to the rest of the fetal organs and structure. From the 6th week of fetal life onwards, the ductus is responsible for most of the right ventricular outflow, and it contributes to 60% of the total cardiac output throughout fetal life. Only about 5-10% of its outflow passes through the lungs.This patency is promoted by continual production of prostaglandin E2 (PGE2) by the ductus.In the foetus, the oxygen tension is relatively low, because the pulmonary system is non-functional. Coupled with high levels of circulating prostaglandins, this acts to keep the ductus open. The high levels of prostaglandins result from the little amount of pulmonary circulation and the high levels of production in the placenta.At birth, the placenta is removed, eliminating a major source of prostaglandin production, and the lungs expand, activating the organ in which most prostaglandins are metabolized. In addition, with the onset of normal respiration, oxygen tension in the blood markedly increases. Pulmonary vascular resistance decreases with this activity.Normally, functional closure of the ductus arteriosus occurs by about 15 hours of life in healthy infants born at term. This occurs by abrupt contraction of the muscular wall of the ductus arteriosus, which is associated with increases in the partial pressure of oxygen (PO2) coincident with the first breath. A preferential shift of blood flow occurs| the blood moves away from the ductus and directly from the right ventricle into the lungs. Until functional closure is complete and PVR is lower than SVR, some residual left-to-right flow occurs from the aorta through the ductus and into the pulmonary arteriesA balance of factors that cause relaxation and contraction determine the vascular tone of the ductus. Major factors causing relaxation are the high prostaglandin levels, hypoxemia, and nitric oxide production in the ductus. Factors resulting in contraction include decreased prostaglandin levels, increased PO2, increased endothelin-1, norepinephrine, acetylcholine, bradykinin, and decreased PGE receptors. Increased prostaglandin sensitivity, in conjunction with pulmonary immaturity leading to hypoxia, contributes to the increased frequency of patent ductus arteriosus (PDA) in premature neonates.Although functional closure usually occurs in the first few hours of life, true anatomic closure, in which the ductus loses the ability to reopen, may take several weeks. The second stage of closure related to the fibrous proliferation of the intima is complete in 2-3 weeks.

In the prenatal heart, right-to-left atrial shunting of blood through the foramen ovale is essential for proper circulation. After birth, as the pulmonary circulation is established, the foramen ovale functionally closes as a result of changes in the relative pressure of the two atrial chambers, ensuring the separation of oxygen-depleted venous blood in the right atrium from the oxygenated blood entering the left atrium.

There are four types of IVH. These are called grades and are based on the degree of bleeding.Grades 1 and 2 involve a smaller amount of bleeding. Most of the time, there are no long-term problems as a result of the bleeding. Grade 1 is also referred to as germinal matrix haemorrhage (GMH).Grades 3 and 4 involve more severe bleeding. The blood presses on (grade 3) or directly involves (grade 4) brain tissue. Grade 4 is also called an intraparenchymal haemorrhage. Blood clots can form and block the flow of cerebrospinal fluid. This can lead to increased fluid in the brain (hydrocephalus).

Turner syndrome is a genetic disease that affects females. It presents with wide-spread nipples, low hairline, lymphoedema, short 4th metacarpals, high-arched palate, cardiac problems, and horseshoe kidneys.

Doctors must perform an infection screen and treat with intravenous antibiotics for at least 48 hours pending results to prevent neonatal sepsis. Risk factors for neonatal sepsis include rupture of the membranes. Risk factors for neonatal sepsis include rupture of membranes greater than 12–24 hours, intrapartum maternal pyrexia (> 38°C), fetal tachycardia, chorioamnionitis, pre-term birth and maternal colonisation with group B Streptococcus. In this case there are two risk factors: prolonged rupture of membranes, and pre-term birth.

Group B beta-haemolytic Streptococcus (GBS) and Escherichia coli are the most common cause of early sepsis. Group B Streptococcus (GBS), also known as Streptococcus agalactiae, is best known as a cause of postpartum infection and as the most common cause of neonatal sepsis. The GBS organism colonizes the vagina, GI tract, and the upper respiratory tract of healthy humans. GBS infection is almost always associated with underlying abnormalities. In elderly persons aged 70 years or older, GBS infection is strongly linked with congestive heart failure and being bedridden.Penicillin remains the drug of choice for group B streptococcal infection but resistance may occur.

Treatment of depression is an important component of maternal and neonatal health. The use of SSRIs and antidepressants in the first trimester are unlikely to carry any congenital risks. However the use of the antidepressants closer to delivery may result in some respiratory, motor, gastrointestinal and central nervous system problems, with the most concerning of these being persistent pulmonary hypertension of the new-born. Other conditions such as cleft palate, jaundice, neural tube defects or floppy baby syndrome have not been shown to occur with SSRI use.

The spinal muscular atrophies (SMAs) comprise a group of autosomal recessive disorders characterized by progressive weakness of the lower motor neurons. several types of spinal muscular atrophies have been described based on age when accompanying clinical features appear. The most common types are acute infantile (SMA type I, or Werdnig-Hoffman disease), chronic infantile (SMA type II), chronic juvenile (SMA type III or Kugelberg-Welander disease), and adult-onset (SMA type IV) forms.SMA type I – Acute infantile or Werdnig-Hoffman diseasePatients present before 6 months of age, with 95% of patients having signs and symptoms by 3 months. They have severe, progressive muscle weakness and flaccid or reduced muscle tone (hypotonia). Bulbar dysfunction includes poor suck ability, reduced swallowing, and respiratory failure. Patients have no involvement of the extraocular muscles, and facial weakness is often minimal or absent. They have no evidence of cerebral involvement, and infants appear alert.Reports of impaired fetal movements are observed in 30% of cases, and 60% of infants with SMA type I are floppy babies at birth. Prolonged cyanosis may be noted at delivery. In some instances, the disease can cause fulminant weakness in the first few days of life. Such severe weakness and early bulbar dysfunction are associated with short life expectancy, with a mean survival of 5.9 months. In 95% of cases, infants die from complications of the disease by 18 months.

Apgar is a quick test performed on a baby at 1 and 5 minutes after birth. The 1-minute score determines how well the baby tolerated the birthing process. The 5-minute score tells the health care provider how well the baby is doing outside the mother’s womb. More specifically, five components are assessed and these are the appearance (A), the pulse (P), the grimace (G), the activity (A) and the respiration (R). A normal APGAR score is considered to be 10 points, 2 points given for each normal component. In this case, 1 point is given for the appearance due to the bluish extremities, 2 points are given for the pulse which is higher than 100 bpm, 1 point is given for the grimacing, 2 points are given for the activity due to the good muscle tone and 1 point is given for the respiration due to gasping. Total score is 7 points.

Bilious (green) gastric aspirate or emesis indicates that the intestines are obstructed below the ampulla of Vater.Gastrointestinal (GI) endoscopy is actually considered an essential diagnostic and therapeutic technique. Upper GI endoscopy in neonatal age allows for exploration of the oesophagus, stomach and duodenum| instead lower GI endoscopy easily reaches the sigmoid-colon junction.

Congenital hypothyroidism (CH) is inadequate thyroid hormone production in new-born infants. It can occur because of an anatomic defect in the gland, an inborn error of thyroid metabolism, or iodine deficiency.CH is the most common neonatal endocrine disorder, and historically, thyroid dysgenesis was thought to account for approximately 80% of cases. However, studies have reported a change in the epidemiology, with a doubling in incidence to around 1 in 1500 live new-borns.​Infants with congenital hypothyroidism are usually born at term or after term. Symptoms and signs include the following:Decreased activityLarge anterior fontanellePoor feeding and weight gainSmall stature or poor growthJaundiceDecreased stooling or constipationHypotoniaHoarse cryProlonged neonatal jaundice or unconjugated hyperbilirubinemia

Identify babies as being more likely to develop significant hyperbilirubinemia if they have any of the following factors:- gestational age under 38 weeks- a previous sibling with neonatal jaundice requiring phototherapy- mother’s intention to breastfeed exclusively- visible jaundice in the first 24 hours of life.

Physiological jaundice is the condition in which there is a yellow discolouration of the eyes and the skin of the baby caused by the build up of bilirubin in the blood due to an immature liver. No other symptoms accompany physiological jaundice, thus it will not present with difficulty in feeding. All the other conditions listed can present with feeding problems.

Neonatal hyperbilirubinemia is a common clinical condition and can be categorized as conjugated and unconjugated hyperbilirubinemia. Conjugated hyperbilirubinemia results from obstructive or hepatocellular causes mainly. The causes of conjugated hyperbilirubinemia include inborn errors of metabolism like galactosemia and aminoaciduria, obstruction from choledochal cysts, and biliary atresia. Long term TPN also leads to conjugated hyperbilirubinemia. Spherocytosis is a hereditary condition belonging to the group of haemolytic anaemias, resulting from plasma membrane protein deficiency. This defect of the RBC plasma membrane decreases their life span, making them osmotically fragile and prone to haemolysis. This leads to an increase in the unconjugated bilirubin levels, with a risk of developing kernicterus.

In this case there is evidence of disseminated intravascular coagulation (DIC) caused by severe birth asphyxia. The baby was born weighing 4,9 kg which is a large size for a new-born and thus a difficult delivery with potential birth asphyxia.

An important predictor of the foetal well-being is the evaluation of amniotic fluid volumes, commonly done using ultrasonography. Amniotic fluid index (AFI) is calculated by measuring the largest vertical diameter of the fluid pocket in all four quadrants of the uterine cavity and then added together. Oligohydramnios or decreased amniotic fluid volume can be defined as an AFI less than 5cm and occurs in about 4-5% of the pregnancies. It is associated with a number of foetal abnormalities and complications. Foetal abnormalities that lead to oligohydramnios include: premature rupture of membranes, intrauterine growth retardation, and congenital foetal abnormalities among others. A single umbilical artery is an anatomical defect of the umbilical cord, which leads to IUGR, uteroplacental insufficiency and may be associated with multiple congenital abnormalities as well, which all ultimately lead to the development of oligohydramnios. Foetal hydrops, developmental dysplasia of the hip and, macrosomia lead to polyhydramnios. Cleft palate is not associated with any of them.

Eight percentage of infantile haemangiomas are focal and solitary. Sixty percent of cutaneous haemangiomas occur on the head and neck, 25% on the trunk, and 15% on the extremities. Haemangiomas also can occur in extracutaneous sites, including the liver, gastrointestinal tract, larynx, CNS, pancreas, gall bladder, thymus, spleen, lymph nodes, lung, urinary bladder, and adrenal glands.Guidelines on the management of infantile haemangioma were released in December 2018 by the American Academy of Paediatrics stating that:Imaging is not necessary unless the diagnosis is uncertain, there are five or more cutaneous infantile haemangiomas present, or there is suspicion of anatomic abnormalities.