Pulmonary hypoplasia

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Pulmonary hypoplasia
Other namesFamilial primary pulmonary hypoplasia
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner
Specialty Pulmonology

Pulmonary hypoplasia is an incomplete development of the lungs, resulting in an abnormally low number or small size of bronchopulmonary segments or alveoli. A congenital malformation, most often occurs secondary to other fetal abnormalities that interfere with normal development of the lungs. Primary (idiopathic) pulmonary hypoplasia is rare and usually not associated with other maternal or fetal abnormalities.

Contents

Incidence of pulmonary hypoplasia ranges from 9–11 per 10,000 live births and 14 per 10,000 births. [1] Pulmonary hypoplasia is a relatively common cause of neonatal death. [2] It also is a common finding in stillbirths, although not regarded as a cause of these.

Causes

Causes of pulmonary hypoplasia include a wide variety of congenital malformations and other conditions in which pulmonary hypoplasia is a complication. [1] These include congenital diaphragmatic hernia, congenital cystic adenomatoid malformation, fetal hydronephrosis, caudal regression syndrome, mediastinal tumor, and sacrococcygeal teratoma with a large component inside the fetus. [3] [4] [5] [6] Large masses of the neck (such as cervical teratoma) can also cause pulmonary hypoplasia, presumably by interfering with the fetus's ability to fill its lungs. In the presence of pulmonary hypoplasia, the EXIT procedure to rescue a baby with a neck mass is not likely to succeed. [7]

Fetal hydrops can be a cause, [8] or conversely a complication. [9]

Pulmonary hypoplasia is associated with oligohydramnios through multiple mechanisms. Both conditions can result from blockage of the urinary bladder. Blockage prevents the bladder from emptying, and the bladder becomes very large and full. The large volume of the full bladder interferes with the normal development of other organs, including the lungs. Pressure within the bladder becomes abnormally high, causing abnormal function in the kidneys; hence, abnormally high pressure in the vascular system enters the kidneys. This high pressure also interferes with normal development of other organs. An experiment in rabbits showed that PH also can be caused directly by oligohydramnios. [10]

Pulmonary hypoplasia is associated with dextrocardia of embryonic arrest in that both conditions can result from early errors of development, resulting in Congenital cardiac disorders.

PH is a common direct cause of neonatal death resulting from pregnancy induced hypertension. [11]

Diagnosis

Medical diagnosis of pulmonary hypoplasia in utero may use imaging, usually ultrasound or MRI. [12] [13] The extent of hypoplasia is a very important prognostic factor. [14] One study of 147 fetuses (49 normal, 98 with abnormalities) found that a simple measurement, the ratio of chest length to trunk (torso) length, was a useful predictor of postnatal respiratory distress. [15] In a study of 23 fetuses, subtle differences seen on MRIs of the lungs were informative. [16] In a study of 29 fetuses with suspected pulmonary hypoplasia, the group that responded to maternal oxygenation had a more favorable outcome. [17]

Pulmonary hypoplasia is diagnosed also clinically.

Management

Management has three components: interventions before delivery, timing and place of delivery, and therapy after delivery.

In some cases, fetal therapy is available for the underlying condition; this may help to limit the severity of pulmonary hypoplasia. In exceptional cases, fetal therapy may include fetal surgery. [18] [19]

A 1992 case report of a baby with a sacrococcygeal teratoma (SCT) reported that the SCT had obstructed the outlet of the urinary bladder causing the bladder to rupture in utero and fill the baby's abdomen with urine (a form of ascites). The outcome was good. The baby had normal kidneys and lungs, leading the authors to conclude that obstruction occurred late in the pregnancy and to suggest that the rupture may have protected the baby from the usual complications of such an obstruction. [20] Subsequent to this report, use of a vesicoamniotic shunting procedure (VASP) has been attempted, with limited success. [21] [22] [23]

Often, a baby with a high risk of pulmonary hypoplasia will have a planned delivery in a specialty hospital such as (in the United States) a tertiary referral hospital with a level 3 neonatal intensive-care unit. The baby may require immediate advanced resuscitation and therapy. [24]

Early delivery may be required in order to rescue the fetus from an underlying condition that is causing pulmonary hypoplasia. However, pulmonary hypoplasia increases the risks associated with preterm birth, because once delivered the baby requires adequate lung capacity to sustain life. The decision whether to deliver early includes a careful assessment of the extent to which delaying delivery may increase or decrease the pulmonary hypoplasia. It is a choice between expectant management and active management. An example is congenital cystic adenomatoid malformation with hydrops; impending heart failure may require a preterm delivery. [25] Severe oligohydramnios of early onset and long duration, as can occur with early preterm rupture of membranes, can cause increasingly severe PH; if delivery is postponed by many weeks, PH can become so severe that it results in neonatal death. [26]

After delivery, most affected babies will require supplemental oxygen. Some severely affected babies may be saved with extracorporeal membrane oxygenation (ECMO). [27] Not all specialty hospitals have ECMO, and ECMO is considered the therapy of last resort for pulmonary insufficiency. [28] An alternative to ECMO is high-frequency oscillatory ventilation. [29]

History

In 1908, Maude Abbott documented pulmonary hypoplasia occurring with certain defects of the heart. [30] In 1915, Abbott and J. C. Meakins showed that pulmonary hypoplasia was part of the differential diagnosis of dextrocardia. [31] In 1920, decades before the advent of prenatal imaging, the presence of pulmonary hypoplasia was taken as evidence that diaphragmatic hernias in babies were congenital, not acquired. [32]

See also

Related Research Articles

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<span class="mw-page-title-main">Polyhydramnios</span> Excess of amniotic fluid in the amniotic sac

Polyhydramnios is a medical condition describing an excess of amniotic fluid in the amniotic sac. It is seen in about 1% of pregnancies. It is typically diagnosed when the amniotic fluid index (AFI) is greater than 24 cm. There are two clinical varieties of polyhydramnios: chronic polyhydramnios where excess amniotic fluid accumulates gradually, and acute polyhydramnios where excess amniotic fluid collects rapidly.

Oligohydramnios is a medical condition in pregnancy characterized by a deficiency of amniotic fluid, the fluid that surrounds the fetus in the abdomen, in the amniotic sac. The limiting case is anhydramnios, where there is a complete absence of amniotic fluid. It is typically diagnosed by ultrasound when the amniotic fluid index (AFI) measures less than 5 cm or when the single deepest pocket (SDP) of amniotic fluid measures less than 2 cm. Amniotic fluid is necessary to allow for normal fetal movement, lung development, and cushioning from uterine compression. Low amniotic fluid can be attributed to a maternal, fetal, placental or idiopathic cause and can result in poor fetal outcomes including death. The prognosis of the fetus is dependent on the etiology, gestational age at diagnosis, and the severity of the oligohydramnios.

Potter sequence is the atypical physical appearance of a baby due to oligohydramnios experienced when in the uterus. It includes clubbed feet, pulmonary hypoplasia and cranial anomalies related to the oligohydramnios. Oligohydramnios is the decrease in amniotic fluid volume sufficient to cause deformations in morphogenesis of the baby.

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<span class="mw-page-title-main">Pulmonary sequestration</span> Medical condition

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<span class="mw-page-title-main">Hydrops fetalis</span> Accumulation of fluid in at least two fetal compartments

Hydrops fetalis or hydrops foetalis is a condition in the fetus characterized by an accumulation of fluid, or edema, in at least two fetal compartments. By comparison, hydrops allantois or hydrops amnion is an accumulation of excessive fluid in the allantoic or amniotic space, respectively.

<span class="mw-page-title-main">Congenital diaphragmatic hernia</span> Medical condition

Congenital diaphragmatic hernia (CDH) is a birth defect of the diaphragm. The most common type of CDH is a Bochdalek hernia; other types include Morgagni hernia, diaphragm eventration and central tendon defects of the diaphragm. Malformation of the diaphragm allows the abdominal organs to push into the chest cavity, hindering proper lung formation.

<span class="mw-page-title-main">Pulmonary atresia</span> Medical condition

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<span class="mw-page-title-main">EXIT procedure</span>

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<span class="mw-page-title-main">Bochdalek hernia</span> Medical condition

Bochdalek hernia is one of two forms of a congenital diaphragmatic hernia, the other form being Morgagni hernia. A Bochdalek hernia is a congenital abnormality in which an opening exists in the infant's diaphragm, allowing normally intra-abdominal organs to enter into the thoracic cavity. In the majority of people, the affected lung will be deformed, and the resulting lung compression can be life-threatening. Bochdalek hernias occur more commonly on the posterior left side.

The Fetal Treatment Center at the University of California, San Francisco is a multidisciplinary care center dedicated to the diagnosis, treatment, and long-term follow-up of fetal birth defects. It combines the talents of specialists in pediatric surgery, genetics, obstetrics/perinatology, radiology, nursing, and neonatal medicine.

Persistent fetal circulation is a condition caused by a failure in the systemic circulation and pulmonary circulation to convert from the antenatal circulation pattern to the "normal" pattern. Infants experience a high mean arterial pulmonary artery pressure and a high afterload at the right ventricle. This means that the heart is working against higher pressures, which makes it more difficult for the heart to pump blood.

<span class="mw-page-title-main">Congenital pulmonary airway malformation</span> Medical condition

Congenital pulmonary airway malformation (CPAM), formerly known as congenital cystic adenomatoid malformation (CCAM), is a congenital disorder of the lung similar to bronchopulmonary sequestration. In CPAM, usually an entire lobe of lung is replaced by a non-working cystic piece of abnormal lung tissue. This abnormal tissue will never function as normal lung tissue. The underlying cause for CPAM is unknown. It occurs in approximately 1 in every 30,000 pregnancies.

<span class="mw-page-title-main">Fryns syndrome</span> Medical condition

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<span class="mw-page-title-main">Pulmonary agenesis</span> Medical condition

Pulmonary agenesis is an inborn lung underdevelopment that is rare and potentially lethal. The disorder is caused by a complete developmental arrest of the primitive lung during embryonic life, and it is often associated with other developmental defects. Bilateral and unilateral pulmonary agenesis are classified, depending on whether one side of the lung or both sides are affected. Bilateral pulmonary agenesis is lethal, while the mortality rate of unilateral pulmonary agenesis is higher than 50%. Depending on the severity, the symptom ranges from none to various respiratory complaints. It is detectable prenatally, however, its nonspecific clinical features act as the obstacle for diagnosing. The exact cause of pulmonary agenesis is still obscure. However, theories have been raised regarding the vascular, iatrogenic, viral and genetic causes of pulmonary agenesis in an attempt to explain the pathogenesis of the disorder. In most cases of pulmonary agenesis, surgical resection is performed to remove the malformed lobe or the entire defected lung of the patient depending on the severity of the respiratory impairment.

References

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  2. ↑ Pinar H (August 2004). "Postmortem findings in term neonates". Seminars in Neonatology. 9 (4): 289–302. doi:10.1016/j.siny.2003.11.003. PMID   15251146.
  3. ↑ Walton JM, Rubin SZ, Soucy P, Benzie R, Ash K, Nimrod C (September 1993). "Fetal tumors associated with hydrops: the role of the pediatric surgeon". Journal of Pediatric Surgery. 28 (9): 1151–1163. doi:10.1016/0022-3468(93)90152-b. PMID   8308682.
  4. ↑ Seo T, Ando H, Watanabe Y, Harada T, Ito F, Kaneko K, Mimura S (November 1999). "Acute respiratory failure associated with intrathoracic masses in neonates". Journal of Pediatric Surgery. 34 (11): 1633–1637. doi:10.1016/s0022-3468(99)90632-2. PMID   10591558.
  5. ↑ Goto M, Makino Y, Tamura R, Ikeda S, Kawarabayashi T (2000). "Sacrococcygeal teratoma with hydrops fetalis and bilateral hydronephrosis". Journal of Perinatal Medicine. 28 (5): 414–418. doi:10.1515/JPM.2000.054. PMID   11125934. S2CID   23998257.
  6. ↑ Merello E, De Marco P, Mascelli S, Raso A, Calevo MG, Torre M, Cama A, Lerone M, Martucciello G, Capra V (March 2006). "HLXB9 homeobox gene and caudal regression syndrome". Birth Defects Research. Part A, Clinical and Molecular Teratology. 76 (3): 205–209. doi:10.1002/bdra.20234. PMID   16498628.
  7. ↑ Liechty KW, Hedrick HL, Hubbard AM, Johnson MP, Wilson RD, Ruchelli ED, Howell LJ, Crombleholme TM, Flake AW, Adzick NS (January 2006). "Severe pulmonary hypoplasia associated with giant cervical teratomas". Journal of Pediatric Surgery. 41 (1): 230–233. doi:10.1016/j.jpedsurg.2005.10.081. PMID   16410139.
  8. ↑ Kaiser L, Arany A, Veszprémi B, Vizer M (March 2007). "[Hydrops fetalis – a retrospective study]". Orvosi Hetilap (in Hungarian). 148 (10): 457–463. doi:10.1556/OH.2007.27951. PMID   17350912.
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  10. ↑ Yoshimura S, Masuzaki H, Miura K, Hayashi H, Gotoh H, Ishimaru T (July 1997). "The effects of oligohydramnios and cervical cord transection on lung growth in experimental pulmonary hypoplasia in rabbits". American Journal of Obstetrics and Gynecology. 177 (1): 72–77. doi:10.1016/s0002-9378(97)70440-x. PMID   9240585.
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  13. ↑ Kasprian G, Balassy C, Brugger PC, Prayer D (February 2006). "MRI of normal and pathological fetal lung development". European Journal of Radiology. 57 (2): 261–270. doi:10.1016/j.ejrad.2005.11.031. PMID   16413987.
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  15. ↑ Ishikawa S, Kamata S, Usui N, Sawai T, Nose K, Okada A (May 2003). "Ultrasonographic prediction of clinical pulmonary hypoplasia: measurement of the chest/trunk-length ratio in fetuses". Pediatric Surgery International. 19 (3): 172–175. doi:10.1007/s00383-002-0912-2. PMID   12687395. S2CID   12453659.
  16. ↑ Kuwashima S, Nishimura G, Iimura F, Kohno T, Watanabe H, Kohno A, Fujioka M (September 2001). "Low-intensity fetal lungs on MRI may suggest the diagnosis of pulmonary hypoplasia". Pediatric Radiology. 31 (9): 669–672. doi:10.1007/s002470100512. PMID   11512012. S2CID   24016373.
  17. ↑ Broth RE, Wood DC, Rasanen J, Sabogal JC, Komwilaisak R, Weiner S, Berghella V (October 2002). "Prenatal prediction of lethal pulmonary hypoplasia: the hyperoxygenation test for pulmonary artery reactivity". American Journal of Obstetrics and Gynecology. 187 (4): 940–945. doi:10.1067/mob.2002.127130. PMID   12388982.
  18. ↑ Evans MI, Harrison MR, Flake AW, Johnson MP (October 2002). "Fetal therapy". Best Practice & Research. Clinical Obstetrics & Gynaecology. 16 (5): 671–683. doi:10.1053/beog.2002.0331. PMID   12475547.
  19. ↑ Menon P, Rao KL (May 2005). "Current status of fetal surgery". Indian Journal of Pediatrics. 72 (5): 433–436. doi:10.1007/bf02731743. PMID   15973028. S2CID   19578605.
  20. ↑ Zaninovic AC, Westra SJ, Hall TR, Sherman MP, Wong L, Boechat MI (1992). "Congenital bladder rupture and urine ascites secondary to a sacrococcygeal teratoma". Pediatric Radiology. 22 (7): 509–511. doi:10.1007/bf02012995. PMID   1491908. S2CID   42647757.
  21. ↑ Lewis KM, Pinckert TL, Cain MP, Ghidini A (May 1998). "Complications of intrauterine placement of a vesicoamniotic shunt". Obstetrics and Gynecology. 91 (5 Pt 2): 825–827. doi: 10.1016/s0029-7844(97)00693-5 . PMID   9572177. S2CID   29058662.
  22. ↑ Makino Y, Kobayashi H, Kyono K, Oshima K, Kawarabayashi T (January 2000). "Clinical results of fetal obstructive uropathy treated by vesicoamniotic shunting". Urology. 55 (1): 118–122. doi:10.1016/S0090-4295(99)00403-3. PMID   10654907.
  23. ↑ Makin EC, Hyett J, Ade-Ajayi N, Patel S, Nicolaides K, Davenport M (February 2006). "Outcome of antenatally diagnosed sacrococcygeal teratomas: single-center experience (1993–2004)". Journal of Pediatric Surgery. 41 (2): 388–393. doi:10.1016/j.jpedsurg.2005.11.017. PMID   16481257.
  24. ↑ Diana W. Bianchi; Timothy M. Crombleholme; Mary E. D'Alton (2000). Fetology: diagnosis & management of the fetal patient. McGraw-Hill Professional. p. 1081. ISBN   978-0-8385-2570-8.
  25. ↑ Bruner JP, Jarnagin BK, Reinisch L (2000). "Percutaneous laser ablation of fetal congenital cystic adenomatoid malformation: too little, too late?". Fetal Diagnosis and Therapy. 15 (6): 359–363. doi:10.1159/000021037. PMID   11111218. S2CID   2303014.
  26. ↑ Carroll SG, Blott M, Nicolaides KH (July 1995). "Preterm prelabor amniorrhexis: outcome of live births". Obstetrics and Gynecology. 86 (1): 18–25. doi:10.1016/0029-7844(95)00085-6. PMID   7784017. S2CID   22292146.
  27. ↑ Muratore CS, Wilson JM (December 2000). "Congenital diaphragmatic hernia: where are we and where do we go from here?". Seminars in Perinatology. 24 (6): 418–428. doi:10.1053/sper.2000.21111. PMID   11153903.
  28. ↑ Thibeault DW, Haney B (February 1998). "Lung volume, pulmonary vasculature, and factors affecting survival in congenital diaphragmatic hernia". Pediatrics. 101 (2): 289–295. doi:10.1542/peds.101.2.289. PMID   9445506.
  29. ↑ Azarow K, Messineo A, Pearl R, Filler R, Barker G, Bohn D (March 1997). "Congenital diaphragmatic hernia – a tale of two cities: the Toronto experience". Journal of Pediatric Surgery. 32 (3): 395–400. doi:10.1016/s0022-3468(97)90589-3. PMID   9094001.
  30. ↑ Abbott, Maude (1908), "Chapter IX: Congenital cardiac disease", in Osler, William (ed.), Modern Medicine: Its Theory and Practice, vol. IV: Diseases of the circulatory system, diseases of the blood, diseases of the spleen, thymus, and lymph-glands, Philadelphia and New York: Lea & Febiger
  31. ↑ M. E. Abbott; J. C. Meakins (1915). "On the differentiation of two forms of congenital dextrocardia". Bulletin of the International Association of Medical Museums (5): 134–138.
  32. ↑ Elmer H. Funk; W. F. Manges (1920). "Eventration of the diaphragm with report of a case". Transactions of the Association of American Physicians. 35: 138–143.
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